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Metadata
ID DOID:0110569
Name autosomal dominant nonsyndromic deafness 44
Definition An autosomal dominant nonsyndromic deafness that is characterized postlingual onset with low to mild frequency progressive hearing loss and has_material_basis_in mutation in the CCDC50 gene on chromosome 3q28.
https://www.ncbi.nlm.nih.gov/pubmed/17503326
Xrefs

ICD10CM:H90.3

OMIM:607453

Synonyms

autosomal dominant deafness 44 [EXACT]

DFNA44 [EXACT]

Parent Relationships

is_a autosomal dominant nonsyndromic deafness

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