Refsum Disease
Disease ID: disease_node_6552
Connections displayed (default: 10).
Loading graph...
| Dbxref | 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 |
|---|---|
| Subclassof | DOID_3146 |
| Data Source | DOID, MESH |
| Synonyms | HMSN type IV, HSMN IV, Heredopathia atactica polyneuritiformis, Refsum's disease, adult Refsum disease, classic Refsum disease, phytanic acid oxidase deficiency |
| Mesh Id | D012035 |
| Mesh Label | Refsum Disease |
| Mesh Subclassof | D020739, D015417, D018901 |
| Doid Label | Refsum disease |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_6552 |
| Doid Id | DOID_10582 |
| Label | Refsum Disease |
- Outgoing r'ship
SUBCLASS_OFto/from Lipid Metabolism, Inborn Errors(ID:disease_node_4772) (Disease)