autosomal recessive nonsyndromic deafness 23

Summary

DOID:0110481 - autosomal recessive nonsyndromic deafness 23

Disease Ontology Definition:An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the PCDH15 gene on chromosome 10q21.

Synonyms: autosomal recessive deafness 23, DFNB23

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

: pcdh15

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012293 - autosomal recessive nonsyndromic hearing loss 23

MONDO:0012293 - autosomal recessive nonsyndromic hearing loss 23

MIM:

MIM:609533 - DEAFNESS, AUTOSOMAL RECESSIVE 23; DFNB23

MIM:609533 - DEAFNESS, AUTOSOMAL RECESSIVE 23; DFNB23

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive nonsyndromic deafness (is_a)