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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:Familial Hyperchylomicronemia Syndrome
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Accession:DOID:9002180 term browser browse the term
Synonyms:exact_synonym: Hyperlipoproteinemia, type 1
 primary_id: MESH:C538489;   RDO:0004443
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 18030
    syndrome 9456
      Familial Hyperchylomicronemia Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          inherited metabolic disorder 4644
            lipid metabolism disorder 1146
              Dyslipidemias 338
                familial hyperlipidemia 310
                  familial chylomicronemia syndrome 5
                    familial lipoprotein lipase deficiency 4
                      Familial Hyperchylomicronemia Syndrome 1
paths to the root