FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term abetalipoproteinemia ID (Ontology) DOID:1386 (Human 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.
Also Known As "familial hypobetalipoproteinemia" ; "microsomal triglyceride transfer protein deficiency disease"
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 Genes
 abetalipoproteinemia       1
 for disease ribbon | abetalipoproteinemia       1
 model of | abetalipoproteinemia       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
lipid metabolism disorder        |
 |__hypolipoproteinemia__________|
                                 abetalipoproteinemia  1 rec.
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Is a autosomal recessive disease
hypolipoproteinemia
Part of
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Synonyms
  • "familial hypobetalipoproteinemia" EXACT
    "microsomal triglyceride transfer protein deficiency disease" EXACT
Secondary IDs
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GARD:5
ICD10CM:E78.6
MESH:D000012
MIM:200100
NCI:C84525
SNOMEDCT_US_2023_03_01:83123000
UMLS_CUI:C0000744