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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:abdominal obesity-metabolic syndrome
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Accession:DOID:0060611 term browser browse the term
Definition:A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease. (DO)
Synonyms:primary_id: MESH:C535554
 xref: OMIM:PS605552


show annotations for term's descendants           Sort by:
abdominal obesity-metabolic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTF1 cardiotrophin 1 ISO MouseDO NCBI chr 6:17,299,561...17,303,095
Ensembl chr 6:17,299,561...17,303,095 		JBrowse link
G GUCY2C guanylate cyclase 2C ISO MouseDO NCBI chr27:31,915,552...31,989,748
Ensembl chr27:31,917,604...31,989,551 		JBrowse link
G LEP leptin ISO MouseDO NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395 		JBrowse link
G NEIL1 nei like DNA glycosylase 1 ISO MouseDO NCBI chr30:38,213,429...38,218,132
Ensembl chr30:38,213,250...38,218,130 		JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15309680 NCBI chr10:19,934,020...20,006,096
Ensembl chr10:19,934,165...20,006,146 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO MouseDO NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA:increased expression:gastrocnemius muscle (rat) RGD PMID:23320128 RGD:7241841 NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269 		JBrowse link
G PRKCI protein kinase C iota ISO MouseDO NCBI chr34:34,767,066...34,839,823
Ensembl chr34:34,766,801...34,837,605 		JBrowse link
G SIRT3 sirtuin 3 ISO MouseDO NCBI chr18:25,369,183...25,388,126
Ensembl chr18:25,369,382...25,388,118 		JBrowse link
G SLC2A9 solute carrier family 2 member 9 ISO MouseDO NCBI chr 3:69,394,304...69,588,462
Ensembl chr 3:69,394,152...69,595,802 		JBrowse link
abdominal obesity-metabolic syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO protein:increased oxidation:cardiac muscle cell RGD PMID:23997093 RGD:13782087 NCBI chr26:8,148,181...8,209,392
Ensembl chr26:8,148,236...8,209,388 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464 		JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658 		JBrowse link
G FADD Fas associated via death domain treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chr18:48,087,447...48,094,497 JBrowse link
G FAS Fas cell surface death receptor ISO RGD PMID:30172001 RGD:13792561 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321 		JBrowse link
G LEP leptin ISO OMIM:605552 MouseDO NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395 		JBrowse link
G LPL lipoprotein lipase treatment ISO RGD PMID:26996629 RGD:13794382 NCBI chr25:37,078,306...37,102,729
Ensembl chr25:37,079,756...37,102,700 		JBrowse link
G MTTP microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 1 ClinVar PMID:8533758 PMID:9671739 PMID:16199547 PMID:16721486 PMID:21394827 More... NCBI chr32:21,582,368...21,626,806
Ensembl chr32:21,570,801...21,628,624 		JBrowse link
G TLR2 toll like receptor 2 susceptibility ISO RGD PMID:19841034 RGD:15090861 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241 		JBrowse link
G TP53INP1 tumor protein p53 inducible nuclear protein 1 ISO OMIM:605552 MouseDO NCBI chr29:39,575,782...39,593,389
Ensembl chr29:39,580,496...39,593,518 		JBrowse link
abdominal obesity-metabolic syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHDC1 AT-hook DNA binding motif containing 1 ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 ClinVar PMID:25741868 PMID:29696776 PMID:33644933 NCBI chr 2:72,711,626...72,762,802
Ensembl chr 2:72,747,701...72,752,605 		JBrowse link
G DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 | ClinVar Annotator: match by term: DYRK1B-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24827035 PMID:25741868 PMID:25741909 More... NCBI chr 1:113,644,191...113,652,441
Ensembl chr 1:113,644,100...113,828,488 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    syndrome 10062
      Metabolic Syndrome 160
        abdominal obesity-metabolic syndrome 21
          abdominal obesity-metabolic syndrome 1 10
          abdominal obesity-metabolic syndrome 3 2
          abdominal obesity-metabolic syndrome 4 0
Path 2
Term Annotations click to browse term
  disease 17774
    Developmental Disease 17565
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17453
        genetic disease 17431
          inherited metabolic disorder 5525
            carbohydrate metabolic disorder 2716
              glucose metabolism disease 1527
                hyperinsulinism 340
                  Insulin Resistance 316
                    Metabolic Syndrome 160
                      abdominal obesity-metabolic syndrome 21
                        abdominal obesity-metabolic syndrome 1 10
                        abdominal obesity-metabolic syndrome 3 2
                        abdominal obesity-metabolic syndrome 4 0
paths to the root