Search Ontology:
Human Disease
abetalipoproteinemia
- Term ID
- DOID:1386
- Synonyms
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- 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. (3)
- References
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- GARD:5
- ICD10CM:E78.6
- MESH:D000012
- MIM:200100
- NCI:C84525
- SNOMEDCT_US_2023_03_01:83123000
- UMLS_CUI:C0000744
- Ontology
- Human Disease ( DOID:1386 )
- is a type of
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