loading...| Preferred Name |
abetalipoproteinemia |
| Synonyms |
microsomal triglyceride transfer protein deficiency disease |
| Definitions |
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. OMIM mapping confirmed by DO. [SN]. |
| ID |
http://purl.obolibrary.org/obo/DOID_1386 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
MESH:D000012 GARD:5 SNOMEDCT_US_2022_09_01:83123000 NCI:C84525 ICD10CM:E78.6 OMIM:200100 UMLS_CUI:C0000744 |
| 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. |
| has exact match |
MESH:D000012 |
| has exact synonym |
microsomal triglyceride transfer protein deficiency disease familial hypobetalipoproteinemia |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:1386 |
| in_subset | |
| label |
abetalipoproteinemia |
| notation |
DOID:1386 |
| prefLabel |
abetalipoproteinemia |
| subClassOf |