|
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: adult Refsum disease, classic Refsum disease, Heredopathia atactica polyneuritiformis, HMSN type IV, HSMN IV, phytanic acid oxidase deficiency, Refsum's disease
Xenbase Genes
:
phyh,
pex26,
pex1,
pex12,
pex7,
pex2
| MONDO:0009958 - bladder lumen |
| 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)