RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
ABL; Bassen Kornzweig Syndrome; Bassen Kornzweig disease; MTP deficiency; MTTP-RELATED CONDITION; acanthocytoses; acanthocytosis; betalipoprotein deficiency disease; betalipoprotein deficiency diseases; microsomal triglyceride transfer protein deficiency; microsomal triglyceride transfer protein deficiency disease
DNA:missense mutations:cds:multiple (human) ClinVar Annotator: match by term: Abetalipoproteinemia | ClinVar Annotator: match by term: MTP DEFICIENCY | ClinVar Annotator: match by term: MTTP-related condition CTD Direct Evidence: marker/mechanism DNA:insertion:cds:c.419-420insA (human) DNA:mutations:cds:multiple (human)