| Metadata | |
|---|---|
| ID | DOID:0110839 |
| Name | Usher syndrome type 2C |
| Definition | An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14. https://www.ncbi.nlm.nih.gov/pubmed/14740321 |
| Xrefs | |
| Synonyms |
USH2C [EXACT] Usher syndrome IIC [EXACT] Usher syndrome type IIC [EXACT] |
| Parent Relationships |
is_a digenic disease |
| Subclass Logical Relationships |
has material basis in some digenic inheritance has material basis in some autosomal recessive inheritance |