Abetalipoproteinemia
Disease ID: disease_node_5
Connections displayed (default: 10).
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| Dbxref | GARD:5, ICD10CM:E78.6, MESH:D000012, MIM:200100, NCI:C84525, SNOMEDCT_US_2023_03_01:83123000, UMLS_CUI:C0000744 |
|---|---|
| Subclassof | DOID_1387, DOID_0050737 |
| Data Source | DOID, MESH |
| Synonyms | familial hypobetalipoproteinemia, microsomal triglyceride transfer protein deficiency disease |
| Mesh Id | D000012 |
| Mesh Label | Abetalipoproteinemia |
| Mesh Subclassof | D006995 |
| Doid Label | abetalipoproteinemia |
| Doid 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. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_5 |
| Doid Id | DOID_1386 |
| Label | Abetalipoproteinemia |
- Outgoing r'ship
SUBCLASS_OFto/from Hypolipoproteinemias(ID:disease_node_4190) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)