| Metadata | |
|---|---|
| ID | DOID:0110827 |
| Name | Usher syndrome type 2 |
| Definition | An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa. https://www.ncbi.nlm.nih.gov/books/NBK1341/, https://ghr.nlm.nih.gov/condition/usher-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/2909824, https://www.ncbi.nlm.nih.gov/pubmed/9624053 |
| Xrefs |
SNOMEDCT_US_2021_09_01:232058008 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
USH2 [EXACT] |
| Parent Relationships |
is_a Usher syndrome |