OBO ID: DOID:1386
Term Name: abetalipoproteinemia Search Ontology:
Synonyms:
  • familial hypobetalipoproteinemia
  • microsomal triglyceride transfer protein deficiency disease
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. (3)
References:
Ontology: Human Disease   (DOID:1386)
OTHER abetalipoproteinemia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MTTP Abetalipoproteinemia 200100
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None