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Disease Ontology Browser
abetalipoproteinemia (DOID:1386)
Alliance: disease page
Synonyms: familial hypobetalipoproteinemia; microsomal triglyceride transfer protein deficiency disease
Alt IDs: OMIM:200100, ICD10CM:E78.6, MESH:D000012, NCI:C84525, UMLS_CUI:C0000744
Definition: A hypolipoproteinemia that is characterized by an inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS.

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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12/10/2024
MGI 6.24 		The Jackson Laboratory