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Human Diseases (thesaurus)

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Concept information

disease > genetic disease > hereditary disease > Wolman disease
disease > metabolic diseases > lipoidosis > Wolman disease
disease > enzymopathy > Wolman disease
disease > metabolic disorder > hypercholesterolemia > Wolman disease
... > disease > metabolic diseases > dyslipemia > hyperlipoproteinemia > hypercholesterolemia > Wolman disease
... > disease > biological abnormality > dyslipemia > hyperlipoproteinemia > hypercholesterolemia > Wolman disease

Preferred term

Wolman disease  

Definition(s)

  • Lysosomal acid lipase deficiency (LAL deficiency or LAL-D), is an autosomal recessive inborn error of metabolism that results in the body not producing enough active lysosomal acid lipase (LAL) enzyme. (Wikipedia)

Broader concept(s)

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URI

http://data.loterre.fr/ark:/67375/VH8-WWVN4096-B

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RDF/XML TURTLE JSON-LD Last modified 5/14/20