| D015223 |
Wolman Disease |
The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE. |
Acid Cholesteryl Ester Hydrolase Deficiency, Type 2,Acid Cholesteryl Ester Hydrolase Deficiency, Wolman Type,Acid Lipase Disease,LIPA Deficiency,Lysosomal Acid Lipase Deficiency,Xanthomatosis, Familial,Xanthomatosis, Wolman's,Acid Lipase Deficiency,Cholesterol ester hydrolase deficiency,Familial Xanthomatosis,LAL Deficiency,Liposomal Acid Lipase Deficiency, Wolman Type,Wolman Disease with Hypolipoproteinemia and Acanthocytosis,Wolman's Disease,Acid Lipase Deficiencies,Acid Lipase Diseases,Deficiencies, Acid Lipase,Deficiencies, LAL,Deficiencies, LIPA,Deficiency, Acid Lipase,Deficiency, LAL,Deficiency, LIPA,Disease, Acid Lipase,Disease, Wolman,Disease, Wolman's,Diseases, Acid Lipase,Familial Xanthomatoses,LAL Deficiencies,LIPA Deficiencies,Lipase Deficiencies, Acid,Lipase Deficiency, Acid,Lipase Disease, Acid,Lipase Diseases, Acid,Wolman's Xanthomatosis,Wolmans Disease,Xanthomatoses, Familial,Xanthomatosis, Wolman,Xanthomatosis, Wolmans |
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