autosomal dominant auditory neuropathy 1

Summary

DOID:0060690 - autosomal dominant auditory neuropathy 1

Disease Ontology Definition:An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q.

Synonyms: AUNA1, nonsyndromic dominant auditory neuropathy, NSDAN

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

: tgfbr1, diaph3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012196 - autosomal dominant auditory neuropathy 1

MONDO:0012196 - autosomal dominant auditory neuropathy 1

MIM:

MIM:609129 - AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 1; AUNA1

MIM:609129 - AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 1; AUNA1

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)