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| Term | Usher syndrome type 2C | ID (Ontology) | DOID:0110839 (Human Disease) | |||||||||
| Definition | An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14. | |||||||||||
| Also Known As | "USH2C" ; "Usher syndrome IIC" ; "Usher syndrome type IIC" | |||||||||||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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Usher syndrome |__Usher syndrome type 2__ polygenic disease | |__digenic disease________| Usher syndrome type 2C 2 rec. |
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digenic disease Usher syndrome type 2 |
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External Crossreferences & Linkouts
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ICD10CM:H35.5 MIM:605472 |
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