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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:Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis
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Accession:DOID:9002822 term browser browse the term
Synonyms:primary_id: MESH:C566263
 alt_id: RDO:0014665


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6783
      disease of metabolism 6783
        lipid metabolism disorder 1484
          xanthomatosis 53
            Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis 1
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          inherited metabolic disorder 5214
            lipid metabolism disorder 1484
              Dyslipidemias 269
                familial hyperlipidemia 242
                  Hyperlipoproteinemias 65
                    hyperlipoproteinemia type III 5
                      Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis 1
paths to the root