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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

OMIM: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

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