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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 14802
    Nutritional and Metabolic Diseases 5731
      disease of metabolism 5731
        lipid metabolism disorder 992
          familial hyperlipidemia 199
            Hyperlipoproteinemias 63
              Hyperlipoproteinemia Type II 58
                High Serum Cholesterol, Familial 0
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
                      High Serum Cholesterol, Familial 0
paths to the root