autosomal dominant nonsyndromic deafness 44

Summary

DOID:0110569 - autosomal dominant nonsyndromic deafness 44

Disease Ontology Definition:An autosomal dominant nonsyndromic deafness that is characterized postlingual onset with low to mild frequency progressive hearing loss and has_material_basis_in mutation in the CCDC50 gene on chromosome 3q28.

Synonyms: autosomal dominant deafness 44, DFNA44

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

: ccdc50

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011832 - autosomal dominant nonsyndromic hearing loss 44

MONDO:0011832 - autosomal dominant nonsyndromic hearing loss 44

MIM:

MIM:607453 - DEAFNESS, AUTOSOMAL DOMINANT 44; DFNA44

MIM:607453 - DEAFNESS, AUTOSOMAL DOMINANT 44; DFNA44

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)