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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,

Xenbase Genes : mttp, mttp.2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008692 - abetalipoproteinemia


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), hypolipoproteinemia (is_a)