WormBase Tree Display for DO_term: DOID:1386
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| DOID:1386 | Name | abetalipoproteinemia | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Comment | OMIM mapping confirmed by DO. | ||||
| Synonym | Exact | familial hypobetalipoproteinemia | |||
| microsomal triglyceride transfer protein deficiency disease | |||||
| Parent | Is_a | DOID:0050737 | |||
| DOID:1387 | |||||
| DB_info | Database | OMIM | disease | 200100 | |
| Attribute_of | Gene_by_orthology | WBGene00001099 |
