Search Ontology:
Human Disease

abetalipoproteinemia

Term ID
DOID:1386
Synonyms
  • familial hypobetalipoproteinemia
  • microsomal triglyceride transfer protein deficiency disease
Definition
A hypolipoproteinemia that is characterized by an inability 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
References
Ontology
Human Disease   ( DOID:1386 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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