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

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

: pnpt1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013978 - autosomal recessive nonsyndromic hearing loss 70

MONDO:0013978 - autosomal recessive nonsyndromic hearing loss 70

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)