Usher Syndrome Type 2C
Disease ID: disease_node_19170
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| Dbxref | ICD10CM:H35.5, MIM:605472 |
|---|---|
| Subclassof | DOID_0080578, DOID_0110827 |
| Data Source | DOID |
| Synonyms | USH2C, Usher syndrome IIC, Usher syndrome type IIC |
| Doid Label | Usher syndrome type 2C |
| Doid Description | An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14. |
| Has Material Basis In | GENO_0000148, GENO_0000930 |
| Disease Node Id | disease_node_19170 |
| Doid Id | DOID_0110839 |
| Label | Usher Syndrome Type 2C |
- Outgoing r'ship
SUBCLASS_OFto/from Digenic Disease(ID:disease_node_13627) (Disease)