| Metadata | |
|---|---|
| ID | DOID:1386 |
| Name | abetalipoproteinemia |
| 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. http://en.wikipedia.org/wiki/Abetalipoproteinemia, http://rarediseases.info.nih.gov/gard/5/abetalipoproteinemia/resources/1, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=14 |
| Xrefs |
SNOMEDCT_US_2023_03_01:83123000 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
familial hypobetalipoproteinemia [EXACT] microsomal triglyceride transfer protein deficiency disease [EXACT] |
| Parent Relationships |
is_a hypolipoproteinemia |