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Metadata
ID DOID:0110559
Name autosomal dominant nonsyndromic deafness 2B
Definition An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the fourth decade of life with by high frequency progressive hearing loss and has_material_basis_in mutation in the GJB3 gene on chromosome 1p34.3.
https://www.ncbi.nlm.nih.gov/pubmed/9843210
Xrefs

ICD10CM:H90.3

MIM:612644

Synonyms

autosomal dominant deafness 2B [EXACT]

DFNA2B [EXACT]

Parent Relationships

is_a autosomal dominant nonsyndromic deafness

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