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Summary Literature (0)
DOID:10582 - Refsum disease

Disease Ontology Definition:A lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues.

Synonyms: HMSN type IV, HSMN IV, Heredopathia atactica polyneuritiformis, Refsum's disease, adult Refsum disease, classic Refsum disease, phytanic acid oxidase deficiency,

Xenbase Genes : phyh, pex26, pex1, pex12, pex7, pex2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009958 - adult Refsum disease


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): lipid metabolism disorder (is_a)