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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 1
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Accession:DOID:14221 term browser browse the term
Definition:An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events. (DO)
Synonyms:exact_synonym: AOMS1;   dysmetabolic syndrome X;   metabolic syndrome X
 related_synonym: METABOLIC SYNDROME, PROTECTION AGAINST
 primary_id: MIM:605552
 xref: EFO:0000195;   GARD:9226;   ICD10CM:E88.81;   ICD9CM:277.7;   NCI:C84442
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
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...54,228,147
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15399
    syndrome 10327
      Metabolic Syndrome 156
        abdominal obesity-metabolic syndrome 20
          abdominal obesity-metabolic syndrome 1 10
Path 2
Term Annotations click to browse term
  disease 15399
    Developmental Disease 13447
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12530
        genetic disease 12236
          inherited metabolic disorder 5829
            carbohydrate metabolic disorder 2824
              glucose metabolism disease 1594
                hyperinsulinism 375
                  Insulin Resistance 310
                    Metabolic Syndrome 156
                      abdominal obesity-metabolic syndrome 20
                        abdominal obesity-metabolic syndrome 1 10
paths to the root