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Summary Literature (0)
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, NSDAN, nonsyndromic dominant auditory neuropathy

Xenbase Genes : tgfbr1, diaph3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012196 - autosomal dominant auditory neuropathy 1

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

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)