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 NCI:C84525 SNOMEDCT_US_2020_03_01:83123000 ICD10CM:E78.6 OMIM:200100 UMLS_CUI:C0000744 |
has exact match |
MESH:D000012 |
has exact synonym |
microsomal triglyceride transfer protein deficiency disease familial hypobetalipoproteinemia |
id |
DOID:1386 |
in_subset | |
label |
abetalipoproteinemia |
notation |
DOID:1386 |
prefLabel |
abetalipoproteinemia |
textual 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. |
引自 | |
有_obo_命名空间 |
disease_ontology |
subClassOf |