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Metadata
ID DOID:0110572
Name autosomal dominant nonsyndromic deafness 49
Definition An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has_material_basis_in variation in the chromosome region 1q21-q23.
https://www.ncbi.nlm.nih.gov/pubmed/14627674
Xrefs

ICD10CM:H90.3

MIM:608372

Synonyms

autosomal dominant deafness 49 [EXACT]

DFNA49 [EXACT]

Parent Relationships

is_a autosomal dominant nonsyndromic deafness

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