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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 13486
    Nutritional and Metabolic Diseases 5353
      disease of metabolism 5353
        lipid metabolism disorder 918
          familial hyperlipidemia 191
            Hyperlipoproteinemias 61
              Hyperlipoproteinemia Type II 56
                High Serum Cholesterol, Familial 0
Path 2
Term Annotations click to browse term
  disease 13486
    Developmental Disease 11083
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10029
        genetic disease 9615
          inherited metabolic disorder 3723
            lipid metabolism disorder 918
              Dyslipidemias 217
                familial hyperlipidemia 191
                  Hyperlipoproteinemias 61
                    Hyperlipoproteinemia Type II 56
                      High Serum Cholesterol, Familial 0
paths to the root