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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 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14802
    Nutritional and Metabolic Diseases 5731
      disease of metabolism 5731
        lipid metabolism disorder 992
          familial hyperlipidemia 199
            Hyperlipoproteinemias 63
              Hyperlipoproteinemia Type II 58
                Familial Hyperbeta- and Prebetalipoproteinemia 1
Path 2
Term Annotations click to browse term
  disease 14802
    Developmental Disease 12041
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10781
        genetic disease 10327
          inherited metabolic disorder 3992
            lipid metabolism disorder 992
              Dyslipidemias 226
                familial hyperlipidemia 199
                  Hyperlipoproteinemias 63
                    Hyperlipoproteinemia Type II 58
                      Familial Hyperbeta- and Prebetalipoproteinemia 1
paths to the root