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Concept information

... > Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Lipid Metabolism, Inborn Errors > Lipidoses > Cholesterol Ester Storage Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Cholesterol Ester Storage Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Cholesterol Ester Storage Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Cholesterol Ester Storage Disease
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Cholesterol Ester Storage Disease

Terme préférentiel

Cholesterol Ester Storage Disease  

Type

  • mesh:Descriptor

Définition

  • An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes.

Concept générique

Concepts spécifiques

Concepts associés

Synonyme(s)

  • Cholesteryl Ester Storage Disease

Qualificatif(s) autorisé(s)

Traductions

  • Maladie de stockage des esters de cholestérol

    français

  • Cholestérolose hépatique
  • Maladie de Caroli-Schiff
  • Maladie de stockage en esters du cholestérol
  • Maladie de surcharge en cholestérol estérifié
  • Polycorie cholestérolique

URI

http://data.loterre.fr/ark:/67375/JVR-RLDTH8L7-N

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RDF/XML TURTLE JSON-LD Date de création 11/05/1988, dernière modification le 01/07/2021