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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:Familial Hyperbeta- and Prebetalipoproteinemia
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Accession:DOID:9002208 term browser browse the term
Synonyms:primary_id: MESH:C566262;   RDO:0014664
For additional species annotation, visit the Alliance of Genome Resources.



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Familial Hyperbeta- and Prebetalipoproteinemia 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: Familial hyperbeta- and prebetalipoproteinemia ClinVar PMID:2992507 PMID:3243553 PMID:6300187 PMID:9649566 PMID:16103896 More... NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15283
    Nutritional and Metabolic Diseases 5931
      disease of metabolism 5931
        lipid metabolism disorder 1027
          familial hyperlipidemia 207
            Hyperlipoproteinemias 64
              Hyperlipoproteinemia Type II 58
                Familial Hyperbeta- and Prebetalipoproteinemia 1
Path 2
Term Annotations click to browse term
  disease 15283
    Developmental Disease 12333
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11065
        genetic disease 10598
          inherited metabolic disorder 4126
            lipid metabolism disorder 1027
              Dyslipidemias 234
                familial hyperlipidemia 207
                  Hyperlipoproteinemias 64
                    Hyperlipoproteinemia Type II 58
                      Familial Hyperbeta- and Prebetalipoproteinemia 1
paths to the root