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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, Wolman xanthomatosis, Wolman's disease, Wolman's or triglyceride storage type III disease, Xanthomatosis, familial, acute infantile lysosomal acid lipase deficiency, complete LAL deficiency, complete LIPA deficiency, complete cholesterol ester hydrolase deficiency, complete lysosomal acid lipase deficiency,
Xenbase Genes
:
lipa
| MONDO:0019148 - Wolman disease |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee