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Disease Ontology Browser
lysosomal acid lipase deficiency (DOID:0080217)
Alliance: disease page
Synonyms: LAL deficiency; LAL-D
Alt IDs: ICD10CM:E75.5, OMIM:PS278000, ORDO:275761, UMLS_CUI:C5574740
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.

Disease References using Mouse Models (2)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory