autosomal dominant nonsyndromic deafness 41

Summary

DOID:0110567 - autosomal dominant nonsyndromic deafness 41

Disease Ontology Definition:An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat progressive hearing loss and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the purinergic receptor P2X 2 gene (P2RX2) on chromosome 12q24.

Synonyms: autosomal dominant deafness 41, DFNA41

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

: p2rx2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011994 - autosomal dominant nonsyndromic hearing loss 41

MONDO:0011994 - autosomal dominant nonsyndromic hearing loss 41

MIM:

MIM:608224 - DEAFNESS, AUTOSOMAL DOMINANT 41; DFNA41

MIM:608224 - DEAFNESS, AUTOSOMAL DOMINANT 41; DFNA41

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)