Search Ontology:
Human Disease

lysosomal acid lipase deficiency

Term ID
DOID:0080217
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
  • MIM:PS278000
  • ORDO:275761
  • UMLS_CUI:C5574740
Ontology
Human Disease   ( DOID:0080217 )
Relationships
is a type of
has subtype
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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