autosomal recessive nonsyndromic deafness 102

Summary

DOID:0110463 - autosomal recessive nonsyndromic deafness 102

Disease Ontology Definition:An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the EPS8 gene on chromosome 12p12.

Synonyms: autosomal recessive deafness 102, DFNB102

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

: eps8

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014428 - autosomal recessive nonsyndromic hearing loss 102

MONDO:0014428 - autosomal recessive nonsyndromic hearing loss 102

MIM:

MIM:615974 - DEAFNESS, AUTOSOMAL RECESSIVE 102; DFNB102

MIM:615974 - DEAFNESS, AUTOSOMAL RECESSIVE 102; DFNB102

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)