autosomal recessive nonsyndromic deafness 70

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Summary

Literature (0)

DOID:0110521 - autosomal recessive nonsyndromic deafness 70

Disease Ontology Definition:An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the PNPT1 gene on chromosome 2p16.

Synonyms: autosomal recessive deafness 70, DFNB70

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pnpt1

OMIM:

MIM:614934 - deafness, autosomal recessive 70; dfnb70

MIM:614934 - deafness, autosomal recessive 70; dfnb70

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)