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: autosomal dominant deafness 5, DFNA5

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

: gsdme

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010973 - autosomal dominant nonsyndromic hearing loss 5

MONDO:0010973 - autosomal dominant nonsyndromic hearing loss 5

MIM:

MIM:600994 - DEAFNESS, AUTOSOMAL DOMINANT 5; DFNA5

MIM:600994 - DEAFNESS, AUTOSOMAL DOMINANT 5; DFNA5

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)