autosomal dominant nonsyndromic deafness 5

Summary

DOID:0110575 - autosomal dominant nonsyndromic deafness 5

Disease Ontology Definition:An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss, and has_material_basis_in heterozygous mutation in the gasdermin E (GSDME) gene on chromosome 7p15.

Synonyms: DFNA5, autosomal dominant deafness 5,

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

OMIM:

MIM:600994 - deafness, autosomal dominant 5; dfna5

MIM:600994 - deafness, autosomal dominant 5; dfna5

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

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

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