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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
G Phkg2 phosphorylase kinase catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Hyperlipoproteinemia type 1 ClinVar PMID:25266922 PMID:25741868 PMID:35038814 PMID:35257483 NCBI chr 1:182,184,362...182,197,124
Ensembl chr 1:182,184,650...182,197,124 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    syndrome 11180
      Familial Hyperchylomicronemia Syndrome 2
Path 2
Term Annotations click to browse term
  disease 19050
    Developmental Disease 14522
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13536
        genetic disease 13199
          inherited metabolic disorder 6611
            lipid metabolism disorder 1906
              Dyslipidemias 418
                familial hyperlipidemia 385
                  familial chylomicronemia syndrome 7
                    familial lipoprotein lipase deficiency 6
                      Familial Hyperchylomicronemia Syndrome 2
paths to the root