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Metadata
ID	DOID:0080217
Name	lysosomal acid lipase deficiency
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. https://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency/, https://www.ncbi.nlm.nih.gov/books/NBK395569/
Xrefs	GARD:12097 ICD10CM:E75.5 MIM:PS278000 ORDO:275761 UMLS_CUI:C5574740
Synonyms	LAL deficiency [EXACT] LAL-D [EXACT]
Parent Relationships	is_a lipid storage disease is_a autosomal recessive disease