autosomal dominant nonsyndromic deafness 78

Summary

DOID:0112159 - autosomal dominant nonsyndromic deafness 78

Disease Ontology Definition:An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of the SLC12A2 gene on chromosome 5q23.3.

Synonyms: DFNA78

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

MIM:

MIM:619081 - DEAFNESS, AUTOSOMAL DOMINANT 78; DFNA78

MIM:619081 - DEAFNESS, AUTOSOMAL DOMINANT 78; DFNA78

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

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

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