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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 chylomicronemia syndrome
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Accession:DOID:0111417 term browser browse the term
Definition:A familial hyperlipidemia characterized by hypertriglyceridemia and fasting chylomicronemia. (DO)
Synonyms:xref: ORDO:444490
For additional species annotation, visit the Alliance of Genome Resources.


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familial apolipoprotein A5 deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa5 apolipoprotein A5 ISO OMIM NCBI chrNW_004936542:2,069,683...2,071,344 JBrowse link
familial apolipoprotein C-II deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoc2 apolipoprotein C2 ISO OMIM NCBI chrNW_004936706:1,531,219...1,531,921 JBrowse link
familial GPIHBP1 deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpihbp1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 ISO OMIM NCBI chrNW_004936470:8,798,095...8,800,176 JBrowse link
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 chrNW_004936555:4,084,099...4,108,219 JBrowse link
familial lipase maturation factor 1 deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmf1 lipase maturation factor 1 ISO OMIM NCBI chrNW_004936501:138,470...200,120 JBrowse link
familial lipoprotein lipase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa5 apolipoprotein A5 ISO ClinVar Annotator: match by term: Hyperlipoproteinemia, type I ClinVar PMID:25741868 NCBI chrNW_004936542:2,069,683...2,071,344 JBrowse link
G Apoc2 apolipoprotein C2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: C-II ANAPOLIPOPROTEINEMIA
ClinVar Annotator: match by term: HYPERLIPOPROTEINEMIA, TYPE IB
CTD
ClinVar
PMID:213719, PMID:1349286, PMID:1628605, PMID:1782747, PMID:1971748, PMID:2477392, PMID:2592354, PMID:3192518, PMID:3225819, PMID:3263393, PMID:3467353, PMID:3680515, PMID:3944267, PMID:3944271, PMID:7815420, PMID:7923858, PMID:8323539, PMID:8490626, PMID:12783430, PMID:25741868, PMID:28492532 NCBI chrNW_004936706:1,531,219...1,531,921 JBrowse link
G Lpl lipoprotein lipase ISO OMIM NCBI chrNW_004936555:4,084,099...4,108,219 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11962
    Nutritional and Metabolic Diseases 3467
      disease of metabolism 3467
        lipid metabolism disorder 685
          familial hyperlipidemia 160
            familial chylomicronemia syndrome 5
              familial GPIHBP1 deficiency 1
              familial apolipoprotein A5 deficiency 1
              familial apolipoprotein C-II deficiency 1
              familial chylomicronemia due to inhibition of lipoprotein lipase activity 0
              familial lipase maturation factor 1 deficiency 1
              familial lipoprotein lipase deficiency + 4
Path 2
Term Annotations click to browse term
  disease 11962
    Developmental Diseases 8545
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7499
        genetic disease 7062
          inherited metabolic disorder 1911
            lipid metabolism disorder 685
              Dyslipidemias 181
                familial hyperlipidemia 160
                  familial chylomicronemia syndrome 5
                    familial GPIHBP1 deficiency 1
                    familial apolipoprotein A5 deficiency 1
                    familial apolipoprotein C-II deficiency 1
                    familial chylomicronemia due to inhibition of lipoprotein lipase activity 0
                    familial lipase maturation factor 1 deficiency 1
                    familial lipoprotein lipase deficiency + 4
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.