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Metadata
DOID DOID:0110475
Name autosomal recessive nonsyndromic deafness 1A
Definition An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12.
https://www.ncbi.nlm.nih.gov/pubmed/9139825
Synonyms

autosomal recessive deafness 1A [EXACT]

DFNB1A [EXACT]

Xrefs

ICD10CM:H90.3

OMIM:220290

Relationships

is_a autosomal recessive nonsyndromic deafness

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