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Human Diseases (thesaurus)

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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(s)

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

Broader concept(s)

In other languages

maladie de Refsum

French
névrite hypertrophique de Refsum

URI

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

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