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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 18156
    Nutritional and Metabolic Diseases 6770
      disease of metabolism 6770
        lipid metabolism disorder 1157
          familial hyperlipidemia 311
            Hyperlipoproteinemias 68
              Hyperlipoproteinemia Type II 62
                High Serum Cholesterol, Familial 0
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          inherited metabolic disorder 4673
            lipid metabolism disorder 1157
              Dyslipidemias 340
                familial hyperlipidemia 311
                  Hyperlipoproteinemias 68
                    Hyperlipoproteinemia Type II 62
                      High Serum Cholesterol, Familial 0
paths to the root