WormBase Tree Display for DO_term: DOID:10582
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| DOID:10582 | Name | Refsum disease | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Comment | OMIM mapping confirmed by DO. | ||||
| Synonym | Exact | HMSN type IV | |||
| HSMN IV | |||||
| Heredopathia atactica polyneuritiformis | |||||
| Refsum's disease | |||||
| adult Refsum disease | |||||
| classic Refsum disease | |||||
| phytanic acid oxidase deficiency | |||||
| Parent | Is_a | DOID:3146 | |||
| DB_info | Database | OMIM | disease | 266500 | |
| Attribute_of | Gene_by_orthology | WBGene00013999 | |||
| WBGene00014000 |
