| Metadata | |
|---|---|
| ID | DOID:0110838 |
| Name | Usher syndrome type 2A |
| Definition | An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41. https://www.ncbi.nlm.nih.gov/pubmed/9624053 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
USH2A [EXACT] Usher syndrome type IIA [EXACT] |
| Parent Relationships |