autosomal recessive nonsyndromic deafness 106

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Summary

Literature (0)

DOID:0080261 - autosomal recessive nonsyndromic deafness 106

Disease Ontology Definition:An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the EPS8L2 gene on chromosome 11p15.

Synonyms:

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

: eps8l2

MIM:

MIM:617637 - DEAFNESS, AUTOSOMAL RECESSIVE 106; DFNB106

MIM:617637 - DEAFNESS, AUTOSOMAL RECESSIVE 106; DFNB106

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)