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DO Term : Refsum disease [DOID:10582] Disease Ontology

Namespace

disease_ontology

Obsolete

false

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.

synonyms:
classic Refsum disease,
ICD9CM:356.3,
adult Refsum disease,
UMLS_CUI:C0034960,
266500,
Heredopathia atactica polyneuritiformis,
HSMN IV,
Refsum's disease,
NCI:C85043,
ICD10CM:G60.1,
OMIM:266500,
SNOMEDCT_US_2023_03_01:25362006,
MESH:D012035,
ORDO:773,
GARD:5691,
phytanic acid oxidase deficiency,
HMSN type IV

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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