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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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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6775
      disease of metabolism 6775
        lipid metabolism disorder 1484
          Apolipoprotein E, Deficiency or Defect of 5
            hyperlipoproteinemia type III 5
              Broad-Betalipoproteinemia 1
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16378
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16321
        genetic disease 16308
          inherited metabolic disorder 5210
            lipid metabolism disorder 1484
              Dyslipidemias 269
                familial hyperlipidemia 242
                  Hyperlipoproteinemias 65
                    hyperlipoproteinemia type III 5
                      Broad-Betalipoproteinemia 1
paths to the root