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