autosomal recessive disease abetalipoproteinemia OMIM mapping confirmed by DO. [SN]. MESH:D000012 GARD:5 UMLS_CUI:C0000744 SNOMEDCT_US_2020_03_01:83123000 DOID:1386 A hypolipoproteinemia that is characterized by an inablility 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. disease_ontology MESH:D000012 ICD10CM:E78.6 NCI:C84525 OMIM:200100 familial hypobetalipoproteinemia microsomal triglyceride transfer protein deficiency disease hypolipoproteinemia