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DO Term : autosomal recessive nonsyndromic deafness 1A [DOID:0110475] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
DFNB1A,
autosomal recessive deafness 1A,
220290,
OMIM:220290,
ICD10CM:H90.3

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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