| Metadata | |
|---|---|
| ID | DOID:0110826 |
| Name | Usher syndrome type 1 |
| Definition | An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa. https://ghr.nlm.nih.gov/condition/usher-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/2909824, https://www.ncbi.nlm.nih.gov/books/NBK1265/ |
| Xrefs | |
| SKOS |
exactMatch NCI:C126327 exactMatch GARD:5435 exactMatch UMLS_CUI:C1568247 exactMatch ORDO:231169 |
| Subsets |
DO_rare_slim |
| Synonyms |
US1 [EXACT] USH1 [EXACT] |
| Parent Relationships |
is_a Usher syndrome |