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Summary Literature (0)
DOID:14497 - Wolman disease

Disease Ontology Definition:A lysosomal acid lipase deficiency characterized by infantile onset of rapidly progressive accumulation of cholesteryl esters and triglycerides throughout the body, resulting in hepatosplenomegaly, severe malnutrition, jaundice, vomiting, diarrhea, steatorrhea. Death usually occurs within the first year of life.

Synonyms: Acid lipase deficiency, complete cholesterol ester hydrolase deficiency, complete LAL deficiency, complete LIPA deficiency, complete lysosomal acid lipase deficiency, Wolman xanthomatosis, Wolman's disease, Xanthomatosis, familial, Wolman's or triglyceride storage type III disease, Acid esterase deficiency, acute infantile lysosomal acid lipase deficiency

Xenbase Genes : lipa

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0019148 - Wolman disease


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): lipid storage disease (is_a), lysosomal acid lipase deficiency (is_a)