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DO Term : Wolman disease [DOID:14497] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • NCI:C61271,
  • Acid lipase deficiency,
  • UMLS_CUI:C0043208,
  • Wolman's or triglyceride storage type III disease,
  • GARD:7899,
  • Wolman xanthomatosis,
  • Wolman's disease,
  • ICD10CM:E75.5,
  • SNOMEDCT_US_2023_03_01:82500001,
  • Acid esterase deficiency,
  • 620151,
  • complete lysosomal acid lipase deficiency,
  • complete LAL deficiency,
  • Xanthomatosis, familial,
  • complete cholesterol ester hydrolase deficiency,
  • OMIM:620151,
  • complete LIPA deficiency,
  • MESH:D015223,
  • ORDO:75233,
  • acute infantile lysosomal acid lipase deficiency
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