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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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Familial Hyperchylomicronemia Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lpl lipoprotein lipase ISO ClinVar Annotator: match by term: Hyperlipoproteinemia type 1 ClinVar PMID:1562620, PMID:1576758, PMID:1598907, PMID:1731801, PMID:1737848, PMID:1907278, PMID:10735636, PMID:16174715, PMID:23246289, PMID:25741868, PMID:30311386 NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Familial Hyperchylomicronemia Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          inherited metabolic disorder 2232
            lipid metabolism disorder 900
              Dyslipidemias 292
                familial hyperlipidemia 268
                  familial chylomicronemia syndrome 5
                    familial lipoprotein lipase deficiency 4
                      Familial Hyperchylomicronemia Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.