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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 19051
    Nutritional and Metabolic Diseases 8523
      disease of metabolism 8523
        lipid metabolism disorder 1906
          xanthomatosis 59
            Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis 1
Path 2
Term Annotations click to browse term
  disease 19051
    Developmental Disease 14522
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13536
        genetic disease 13199
          inherited metabolic disorder 6610
            lipid metabolism disorder 1906
              Dyslipidemias 418
                familial hyperlipidemia 385
                  Hyperlipoproteinemias 95
                    hyperlipoproteinemia type III 5
                      Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis 1
paths to the root