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RGD DISEASE ONTOLOGY - ANNOTATIONS

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.

Term:Broad-Betalipoproteinemia
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Accession:DOID:9004769 term browser browse the term
Synonyms:exact_synonym: broad beta disease;   broad-beta hyperlipoproteinemia
 primary_id: MESH:C566264


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Broad-Betalipoproteinemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOE apolipoprotein E ISO ClinVar Annotator: match by term: Broad beta disease | ClinVar Annotator: match by term: Broad-betalipoproteinemia ClinVar PMID:2992507 PMID:3243553 PMID:3745433 PMID:6300187 PMID:7735921 More... NCBI chr 6:38,377,154...38,381,219
Ensembl chr 6:38,376,887...38,381,438
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17472
    Nutritional and Metabolic Diseases 7073
      disease of metabolism 7073
        lipid metabolism disorder 1541
          Apolipoprotein E, Deficiency or Defect of 5
            hyperlipoproteinemia type III 5
              Broad-Betalipoproteinemia 1
Path 2
Term Annotations click to browse term
  disease 17472
    Developmental Disease 17373
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17308
        genetic disease 17294
          inherited metabolic disorder 5440
            lipid metabolism disorder 1541
              Dyslipidemias 278
                familial hyperlipidemia 249
                  Hyperlipoproteinemias 66
                    hyperlipoproteinemia type III 5
                      Broad-Betalipoproteinemia 1
paths to the root