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Summary Literature (1)
DOID:1386 - abetalipoproteinemia


Disease Ontology Definition: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.

Synonyms: familial hypobetalipoproteinemia, microsomal triglyceride transfer protein deficiency disease

Referenced OMIM:
OMIM:200100 - ABETALIPOPROTEINEMIA; ABL

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : mttp.1, mttp.2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal recessive disease (is_a), hypolipoproteinemia (is_a)


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