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Summary Literature (0)
DOID:0080181 - PHARC syndrome

Disease Ontology Definition:A syndrome that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract.

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

Xenbase Genes : abhd12

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012984 - PHARC syndrome

MIM:
MIM:612674 - POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT; PHARC

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

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