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Metadata
ID DOID:10582
Name Refsum 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.
https://en.wikipedia.org/wiki/Refsum_disease, https://medlineplus.gov/genetics/condition/refsum-disease/, https://pubmed.ncbi.nlm.nih.gov/30578512/, https://rarediseases.org/rare-diseases/refsum-disease/
Xrefs

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

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

adult Refsum disease [EXACT]

classic Refsum disease [EXACT]

Heredopathia atactica polyneuritiformis [EXACT]

HMSN type IV [EXACT]

HSMN IV [EXACT]

phytanic acid oxidase deficiency [EXACT]

Refsum's disease [EXACT]

Parent Relationships

is_a lipid metabolism disorder

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