Term Name: | Usher syndrome type 2C |
---|---|
Synonyms: | USH2C, Usher syndrome IIC, Usher syndrome type IIC |
Definition: | An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14. |
Ontology: | Human Disease [DOID:0110839] ( DOID:0110839 ) |