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 familial hyperlipidemia that has_material_basis_in by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene on chromosome 19q13. (DO)
Synonyms:
exact_synonym:
DYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E-d; Dysbetalipoproteinemia; FLOATING-BETALIPOPROTEINEMIA; Familial Dysbetalipoproteinemia; apolipoprotein E, deficiency or defect of; carbohydrate induced hyperlipemia; familial hypercholesterolaemia with hyperlipaemia; familial hypercholesterolemia with hyperlipemia; familial type 3 hyperlipoproteinemia; hyperlipoproteinemias type III; remnant hyperlipidemia
narrow_synonym:
HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE3(WASHINGTON); hyperlipoproteinemias type III, due to APOE2
ClinVar Annotator: match by term: APOE5 VARIANT | ClinVar Annotator: match by term: Coronary artery disease, severe, susceptibility to | ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia | ClinVar Annotator: match by term: Floating-betalipoproteinemia | ClinVar Annotator: match by term: HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE3(WASHINGTON) CTD Direct Evidence: marker/mechanism DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) DNA:missense mutation:cds:p.R158C (human)
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