autosomal recessive nonsyndromic deafness 36

Summary

DOID:0110494 - autosomal recessive nonsyndromic deafness 36

Disease Ontology Definition:An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the ESPN gene on chromosome 1p36.

Synonyms: autosomal recessive deafness 36, DFNB36

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

: espn

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012170 - autosomal recessive nonsyndromic hearing loss 36

MONDO:0012170 - autosomal recessive nonsyndromic hearing loss 36

MIM:

MIM:609006 - DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT; DFNB36

MIM:609006 - DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT; DFNB36

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)