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DO Term : abetalipoproteinemia [DOID:1386] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • MESH:D000012,
  • GARD:5,
  • ICD10CM:E78.6,
  • familial hypobetalipoproteinemia,
  • SNOMEDCT_US_2023_03_01:83123000,
  • NCI:C84525,
  • microsomal triglyceride transfer protein deficiency disease,
  • OMIM:200100,
  • UMLS_CUI:C0000744,
  • 200100
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Disease

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents