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Disease Ontology Browser
Refsum disease (DOID:10582)
Alliance: disease page
Synonyms: adult Refsum disease; classic Refsum disease; Heredopathia atactica polyneuritiformis; HMSN type IV; HSMN IV; phytanic acid oxidase deficiency; Refsum's disease
Alt IDs: OMIM:266500, ICD10CM:G60.1, ICD9CM_2006:356.3, ICD9CM:356.3, MESH:D012035, NCI:C85043, ORDO:773, UMLS_CUI:C0034960
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory