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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 inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_physical_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 (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL).

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.12
The Jackson Laboratory