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Metadata
ID DOID:1386
Name abetalipoproteinemia
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.
http://en.wikipedia.org/wiki/Abetalipoproteinemia, http://rarediseases.info.nih.gov/gard/5/abetalipoproteinemia/resources/1, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=14
Xrefs

CSP2005:1849-5137

GARD:5

ICD10CM:E78.6

MESH:D000012

MTHICD9_2006:272.5

NCI:C84525

OMIM:200100

SNOMEDCT_US_2018_03_01:83123000

UMLS_CUI:C0000744

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

familial hypobetalipoproteinemia [EXACT]

microsomal triglyceride transfer protein deficiency disease [EXACT]

Parent Relationships

is_a hypolipoproteinemia

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