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| Term | Refsum disease | ID (Ontology) | DOID:10582 (Human Disease) |
| 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. | ||
| Also Known As | "adult Refsum disease" ; "classic Refsum disease" ; "Heredopathia atactica polyneuritiformis" (for all, see Synonyms field below) | ||
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inherited metabolic disorder |__lipid metabolism disorder |__Refsum disease |
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| Is a | lipid metabolism disorder | ||
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GARD:5691 ICD10CM:G60.1 ICD9CM:356.3 MESH:D012035 MIM:266500 NCI:C85043 ORDO:773 SNOMEDCT_US_2023_03_01:25362006 UMLS_CUI:C0034960 |
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