Visualize Submit Comment
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 autosomal recessive nonsyndromic deafness

is_a digenic disease

Subclass Logical Relationships

has material basis in some digenic inheritance

Add an item to the term tracker