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disease > genetic disease > hereditary disease > Refsum disease
disease > metabolic diseases > lipoidosis > Refsum disease
disease > degenerative disease > Refsum disease
disease > enzymopathy > Refsum disease
disease > nervous system diseases > peripheral nerve disease > Refsum disease

Preferred term

Refsum disease  

Definition

  • Refsum disease is an autosomal recessive neurological disease that results in the over-accumulation of phytanic acid in cells and tissues. (Wikipedia)

Broader concept

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URI

http://data.loterre.fr/ark:/67375/VH8-NLJ9SXMF-5

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