autosomal dominant nonsyndromic deafness 3A

Summary

DOID:0110564 - autosomal dominant nonsyndromic deafness 3A

Disease Ontology Definition:An autosomal dominant nonsyndromic deafness that is characterized by prelingual, high frequency hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12.

Synonyms: autosomal dominant deafness 3A, DFNA3A

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: gjb2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011103 - autosomal dominant nonsyndromic hearing loss 3A

MONDO:0011103 - autosomal dominant nonsyndromic hearing loss 3A

MIM:

MIM:601544 - DEAFNESS, AUTOSOMAL DOMINANT 3A; DFNA3A

MIM:601544 - DEAFNESS, AUTOSOMAL DOMINANT 3A; DFNA3A

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view

Parent(s): autosomal dominant nonsyndromic deafness (is_a)