OBO ID: DOID:0080217
Term Name: lysosomal acid lipase deficiency Search Ontology:
Synonyms:
  • LAL deficiency
  • LAL-D
Definition: 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. (2)
References:
  • GARD:12097
  • ICD10CM:E75.5
  • OMIM:PS278000
  • ORDO:275761
  • UMLS_CUI:C5574740
Ontology: Human Disease   ( DOID:0080217 )
Relationships
is a type of:
has subtype:
OTHER lysosomal acid lipase deficiency PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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