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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

MIM:620227

SKOS

exactMatch MIM:620227

Synonyms

autosomal dominant deafness 85 [EXACT]

DFNA85 [EXACT]

Parent Relationships

is_a autosomal dominant nonsyndromic deafness

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