Term Name: | lysosomal acid lipase deficiency |
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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. |
Ontology: | Human Disease [DOID:0080217] ( DOID:0080217 ) |