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Refsum disease
Summary
- Synonym
-
- HMSN type IV
- HSMN IV
- Heredopathia atactica polyneuritiformis
- Refsum's disease
- adult Refsum disease
- classic Refsum disease
- phytanic acid oxidase deficiency
- 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.
- Super Class
- lipid metabolism disorder
External Links
- Disease Ontology
- DOID:10582
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
