| Metadata | |
|---|---|
| ID | DOID:0070655 |
| Name | Usher syndrome type 1B |
| Definition | An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the MYO7A gene on chromosome 11q13. https://pubmed.ncbi.nlm.nih.gov/7870171/ |
| Xrefs | |
| SKOS |
exactMatch MESH:C536485 exactMatch MIM:276900 exactMatch UMLS_CUI:C2931206 |
| Subsets |
DO_rare_slim |
| Synonyms |
USH1B [EXACT] Usher syndrome type IB [EXACT] |
| Parent Relationships |