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Metadata
ID DOID:0110564
Name autosomal dominant nonsyndromic deafness 3A
Definition An autosomal dominant nonsyndromic deafness that is characterized by prelingual, high frequency hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12.
https://www.ncbi.nlm.nih.gov/pubmed/9139825
Xrefs

ICD10CM:H90.3

OMIM:601544

Synonyms

autosomal dominant deafness 3A [EXACT]

DFNA3A [EXACT]

Parent Relationships

is_a autosomal dominant nonsyndromic deafness

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