Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
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 esterase deficiency, Acid lipase deficiency, acute infantile lysosomal acid lipase deficiency, complete cholesterol ester hydrolase deficiency, complete LAL deficiency, complete LIPA deficiency, complete lysosomal acid lipase deficiency, Wolman's disease, Wolman's or triglyceride storage type III disease, Wolman xanthomatosis, Xanthomatosis, familial

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, Ontobee
Parent(s): lipid storage disease (is_a), lysosomal acid lipase deficiency (is_a)