OBO ID: DOID:10582
Term Name: Refsum disease Search Ontology:
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
  • NCI:C85043
  • OMIM:266500
  • ORDO:773
  • SNOMEDCT_US_2023_03_01:25362006
  • UMLS_CUI:C0034960
Ontology: Human Disease   ( DOID:10582 )
Relationships
is a type of:
OTHER Refsum disease PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PHYH Refsum disease 266500
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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