| 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 |
SNOMEDCT_US_2023_03_01:25362006 |
| 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 |