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DO Term : lysosomal acid lipase deficiency [DOID:0080217] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A lipid storage disease characterized by dyslipidemia and accumulation of cholesteryl esters and triglycerides within various organs that has_material_basis_in homozygous or compound heterozygous mutation in the LIPA gene on chromosome 10q23.31.
  • synonyms:
  • OMIM:PS278000,
  • GARD:12097,
  • LAL-D,
  • LAL deficiency,
  • ORDO:275761,
  • PS278000,
  • UMLS_CUI:C5574740,
  • ICD10CM:E75.5
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Disease

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents