Metadata | |
---|---|
ID | DOID:0070605 |
Name | autosomal dominant nonsyndromic deafness 85 |
Definition | An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the USP48 gene on chromosome 1p36. https://pubmed.ncbi.nlm.nih.gov/34059922/ |
Xrefs | |
SKOS |
exactMatch MIM:620227 |
Synonyms |
autosomal dominant deafness 85 [EXACT] DFNA85 [EXACT] |
Parent Relationships |