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Echinobase
Summary Literature (0)
DOID:0080181 - PHARC syndrome

Disease Ontology Definition:An autosomal recessive disease that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract.

Synonyms: polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract

Echinobase Genes : LOC100891460


OMIM:
OMIM:612674 - polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract; pharc

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a)