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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:High Serum Cholesterol, Familial
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Accession:DOID:9000798 term browser browse the term
Synonyms:exact_synonym: Hyperlipidema, Familial;   Hyperlipoproteinemia, type 2 A
 primary_id: MESH:C538646
For additional species annotation, visit the Alliance of Genome Resources.



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15285
    Nutritional and Metabolic Diseases 5932
      disease of metabolism 5932
        lipid metabolism disorder 1026
          familial hyperlipidemia 207
            Hyperlipoproteinemias 64
              Hyperlipoproteinemia Type II 58
                High Serum Cholesterol, Familial 0
Path 2
Term Annotations click to browse term
  disease 15285
    Developmental Disease 12383
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11117
        genetic disease 10652
          inherited metabolic disorder 4125
            lipid metabolism disorder 1026
              Dyslipidemias 234
                familial hyperlipidemia 207
                  Hyperlipoproteinemias 64
                    Hyperlipoproteinemia Type II 58
                      High Serum Cholesterol, Familial 0
paths to the root