Search Ontology:
Human Disease

Refsum disease

Term ID
DOID:10582
Synonyms
  • adult Refsum disease
  • classic Refsum disease
  • Heredopathia atactica polyneuritiformis
  • HMSN type IV
  • HSMN IV
  • phytanic acid oxidase deficiency
  • Refsum's 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. (4)
References
  • 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
Ontology
Human Disease   ( DOID:10582 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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