autosomal dominant nonsyndromic deafness 1

Summary

DOID:0110541 - autosomal dominant nonsyndromic deafness 1

Disease Ontology Definition:An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31.

Synonyms: autosomal dominant deafness 1, autosomal dominant deafness 1, with or without thrombocytopenia, DFNA1, hereditary low frequency hearing loss 1, Konigsmark syndrome, LFHL1

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

: diaph1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007424 - autosomal dominant nonsyndromic hearing loss 1

MONDO:0007424 - autosomal dominant nonsyndromic hearing loss 1

MIM:

MIM:124900 - DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA; DFNA1

MIM:124900 - DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA; DFNA1

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)