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Disease Ontology Browser
Wolman disease (DOID:14497)
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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 xanthomatosis; Wolman's disease; Wolman's or triglyceride storage type III disease; Xanthomatosis, familial
Alt IDs: OMIM:620151, ICD10CM:E75.5, MESH:D015223, NCI:C61271, ORDO:75233, UMLS_CUI:C0043208
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.

Disease References using Mouse Models (2)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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09/03/2024
MGI 6.24 		The Jackson Laboratory