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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


show annotations for term's descendants           Sort by:
familial apolipoprotein A5 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa5 apolipoprotein A5 susceptibility ISO OMIM NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816 		JBrowse link
familial apolipoprotein C-II deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoc2 apolipoprotein C2 ISO ClinVar Annotator: match by term: Familial apolipoprotein C-II deficiency OMIM
ClinVar		 PMID:213719 PMID:1349286 PMID:1628605 PMID:1782747 PMID:1971748 More... NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476 		JBrowse link
familial GPIHBP1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpihbp1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 ISO ClinVar Annotator: match by term: Hyperlipoproteinemia, type 1D
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:19304573 PMID:20026666 PMID:20124439 PMID:21478160 More... NCBI chr 7:107,285,584...107,288,702
Ensembl chr 7:107,285,654...107,288,702 		JBrowse link
Familial Hyperchylomicronemia Syndrome term browser
Symbol Object Name Qualifiers 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
familial lipase maturation factor 1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmf1 lipase maturation factor 1 ISO ClinVar Annotator: match by term: LMF1-related condition | ClinVar Annotator: match by term: Lipase deficiency, combined
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17994020 PMID:19820022 PMID:22135386 PMID:22239554 PMID:24909692 More... NCBI chr10:14,597,726...14,684,071
Ensembl chr10:14,597,594...14,684,119 		JBrowse link
G Lpl lipoprotein lipase ISO ClinVar Annotator: match by term: Lipase deficiency, combined ClinVar PMID:25741868 PMID:25741914 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249 		JBrowse link
familial lipoprotein lipase deficiency term browser
Symbol Object Name Qualifiers 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 chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816 		JBrowse link
G Apoc2 apolipoprotein C2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: C-II ANAPOLIPOPROTEINEMIA		 CTD
ClinVar		 PMID:213719 PMID:1349286 PMID:1628605 PMID:1782747 PMID:1971748 More... NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476 		JBrowse link
G Lpl lipoprotein lipase ISO
ISS		 ClinVar Annotator: match by term: Familial Lipoprotein Lipase Deficiency | ClinVar Annotator: match by term: Familial chylomicronemia | ClinVar Annotator: match by term: Hyperlipemia essential familial | ClinVar Annotator: match by term: Hyperlipoproteinemia, type I
DNA:missense mutation:exon:p.D156G (human)
CTD Direct Evidence: marker/mechanism
OMIM:238600		 ClinVar
OMIM
CTD
MouseDO
RGD		 PMID:1351946 PMID:1371284 PMID:1400331 PMID:1479292 PMID:1505655 More... RGD:1580533, RGD:1302536, RGD:1556752 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 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        lipid metabolism disorder 1735
          familial hyperlipidemia 362
            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 2
              familial lipoprotein lipase deficiency + 4
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          inherited metabolic disorder 6214
            lipid metabolism disorder 1735
              Dyslipidemias 395
                familial hyperlipidemia 362
                  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 2
                    familial lipoprotein lipase deficiency + 4
paths to the root