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Metadata
ID	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
Xrefs	ICD10CM:H90.3 MIM:220290
Synonyms	autosomal recessive deafness 1A [EXACT] DFNB1A [EXACT]
Parent Relationships	is_a digenic disease is_a autosomal recessive nonsyndromic deafness