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skos:definition |
MSH: 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.,CSP: rare benign adult form of inherited lysosomal lipid storage disease that is due to deficiency of acid lipase; results in an accumulation of neutral lipids, particularly cholesterol esters, within cells (particularly leukocytes, fibroblasts, and liver cells); it is an allelic variant of Wolman disease.
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