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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 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14495
    Nutritional and Metabolic Diseases 5653
      disease of metabolism 5653
        lipid metabolism disorder 975
          familial hyperlipidemia 196
            Hyperlipoproteinemias 63
              Hyperlipoproteinemia Type II 58
                Familial Hyperbeta- and Prebetalipoproteinemia 1
Path 2
Term Annotations click to browse term
  disease 14495
    Developmental Disease 11855
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10652
        genetic disease 10204
          inherited metabolic disorder 3938
            lipid metabolism disorder 975
              Dyslipidemias 223
                familial hyperlipidemia 196
                  Hyperlipoproteinemias 63
                    Hyperlipoproteinemia Type II 58
                      Familial Hyperbeta- and Prebetalipoproteinemia 1
paths to the root