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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: Heredopathia atactica polyneuritiformis, HMSN type IV, HSMN IV, Refsum's disease, adult Refsum disease, classic Refsum disease, phytanic acid oxidase deficiency
Echinobase Genes
:
pex12,
pex7
| MIM:266500 - refsum disease, classic |
| MIM:266510 - peroxisome biogenesis disorder 3b; pbd3b |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
lipid metabolism disorder (is_a)