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

Preferred term

Cholesterol Ester Storage Disease  

Type

  • Topical Descriptor

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Entry terms

  • Cholesteryl Ester Storage Disease

Scope note

  • 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.

History note

  • 89

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URI

http://www.yso.fi/onto/mesh/D015217

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