|  Help  |  About  |  Contact Us

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

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents