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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


show annotations for term's descendants           Sort by:
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:1351946 PMID:1371284 PMID:1400331 PMID:1479292 PMID:1505655 More... NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    syndrome 10725
      Familial Hyperchylomicronemia Syndrome 1
Path 2
Term Annotations click to browse term
  disease 21118
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18310
        genetic disease 18254
          inherited metabolic disorder 6191
            lipid metabolism disorder 1715
              Dyslipidemias 394
                familial hyperlipidemia 362
                  familial chylomicronemia syndrome 5
                    familial lipoprotein lipase deficiency 4
                      Familial Hyperchylomicronemia Syndrome 1
paths to the root