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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



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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 3:17,539,927...17,545,250
Ensembl chr 3:17,539,941...17,544,396
JBrowse link
G LEP leptin ISO MouseDO NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323
JBrowse link
G NEIL1 nei like DNA glycosylase 1 ISO MouseDO NCBI chr 7:58,261,761...58,269,001
Ensembl chr 7:58,261,769...58,268,522
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15309680 NCBI chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,741...3,364,239
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO MouseDO NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,322...68,433,944
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA:increased expression:gastrocnemius muscle (rat) RGD PMID:23320128 RGD:7241841 NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,946,992
JBrowse link
G PRKCI protein kinase C iota ISO MouseDO NCBI chr13:108,913,018...108,997,934
Ensembl chr13:108,913,173...108,997,931
JBrowse link
G SIRT3 sirtuin 3 ISO MouseDO NCBI chr 2:38,465...55,074
Ensembl chr 2:38,464...55,101
JBrowse link
G SLC2A9 solute carrier family 2 member 9 ISO MouseDO NCBI chr 8:6,211,143...6,367,530
Ensembl chr 8:6,210,478...6,367,496
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 chr14:31,674,659...31,744,981
Ensembl chr14:31,674,757...31,744,969
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,140
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879
JBrowse link
G FADD Fas associated via death domain treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chr 2:3,191,718...3,194,820
Ensembl chr 2:3,185,675...3,194,818
JBrowse link
G FAS Fas cell surface death receptor ISO RGD PMID:30172001 RGD:13792561 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
JBrowse link
G LEP leptin ISO OMIM:605552 MouseDO NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323
JBrowse link
G LPL lipoprotein lipase treatment ISO RGD PMID:26996629 RGD:13794382 NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814
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 chr 8:120,820,660...120,871,468
Ensembl chr 8:120,820,656...120,879,388
JBrowse link
G TLR2 toll like receptor 2 susceptibility ISO RGD PMID:19841034 RGD:15090861 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
JBrowse link
G TP53INP1 tumor protein p53 inducible nuclear protein 1 ISO OMIM:605552 MouseDO NCBI chr 4:41,747,654...41,766,688
Ensembl chr 4:41,747,654...41,766,685
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 6:84,735,253...84,774,554 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 6:48,305,837...48,314,523
Ensembl chr 6:48,305,849...48,314,514
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    syndrome 9894
      Metabolic Syndrome 156
        abdominal obesity-metabolic syndrome 20
          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 17412
    Developmental Disease 17260
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17174
        genetic disease 17155
          inherited metabolic disorder 5435
            carbohydrate metabolic disorder 2680
              glucose metabolism disease 1511
                hyperinsulinism 334
                  Insulin Resistance 310
                    Metabolic Syndrome 156
                      abdominal obesity-metabolic syndrome 20
                        abdominal obesity-metabolic syndrome 1 10
                        abdominal obesity-metabolic syndrome 3 2
                        abdominal obesity-metabolic syndrome 4 0
paths to the root