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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:ankylosing spondylitis
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Accession:DOID:7147 term browser browse the term
Definition:An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage. (DO)
Synonyms:exact_synonym: Bechterew Disease;   Bechterew syndrome;   Bechterew's disease;   Bechterews disease;   Bekhterev syndrome;   Bekhterev's disease;   Marie Struempell disease;   Marie Strumpell spondylitis;   Marie-Strumpell disease;   ankylosing spondylarthritides;   ankylosing spondylarthritis;   ankylosing spondyloarthritides;   ankylosing spondyloarthritis;   rheumatoid spondylitis;   spondylarthritis ankylopoietica;   spondylitis ankylopoietica;   spondyloarthritis ankylopoietica
 related_synonym: ankylosing spondylitis, susceptibility to
 primary_id: MESH:D013167
 xref: EFO:0003898;   GARD:9518;   ICD10CM:M45;   ICD9CM:720.0;   MIM:PS106300;   NCI:C84564;   ORDO:825
For additional species annotation, visit the Alliance of Genome Resources.


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ankylosing spondylitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21122270 RGD:5686891 NCBI chrNW_004936578:3,168,599...3,179,369
Ensembl chrNW_004936578:3,168,331...3,171,928
JBrowse link
G Ano6 anoctamin 6 severity ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs17095830(human)
CTD
RGD
PMID:22138694 PMID:23308121 RGD:9684849 NCBI chrNW_004936512:3,649,103...3,736,274
Ensembl chrNW_004936512:3,540,129...3,732,776
JBrowse link
G Antxr2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 PMID:21743469 NCBI chrNW_004936749:1,936,307...2,014,452
Ensembl chrNW_004936749:1,936,449...2,015,200
JBrowse link
G Aspn asporin susceptibility ISO DNA:repeats:exon: RGD PMID:20144272 RGD:9684964 NCBI chrNW_004936487:2,080,014...2,104,534
Ensembl chrNW_004936487:2,079,973...2,104,499
JBrowse link
G Card9 caspase recruitment domain family member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chrNW_004936669:1,428,208...1,438,012
Ensembl chrNW_004936669:1,429,594...1,438,005
JBrowse link
G Crp C-reactive protein disease_progression ISO protein:increased expression:serum: RGD PMID:6605119 PMID:22422197 RGD:6482308 RGD:9491788 NCBI chrNW_004936740:885,855...888,854
Ensembl chrNW_004936740:883,272...890,606
JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17952073 PMID:20062062 PMID:21743469 PMID:23291587 NCBI chrNW_004936523:6,661,119...6,686,988
Ensembl chrNW_004936523:6,661,315...6,690,425
JBrowse link
G Erap2 endoplasmic reticulum aminopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33550689 NCBI chrNW_004936523:6,545,281...6,584,403
Ensembl chrNW_004936523:6,544,207...6,584,452
JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 ISO protein:decreased expression:serum RGD PMID:9851264 RGD:10402573 NCBI chrNW_004936478:20,511,490...20,518,251
Ensembl chrNW_004936478:20,510,137...20,518,306
JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chrNW_004936515:4,056,214...4,066,121
Ensembl chrNW_004936515:4,056,214...4,065,076
JBrowse link
G Il17a interleukin 17A treatment ISO RGD PMID:24035250 RGD:9068448 NCBI chrNW_004936476:8,621,860...8,625,008
Ensembl chrNW_004936476:8,621,860...8,625,008
JBrowse link
G Il1r2 interleukin 1 receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 NCBI chrNW_004936713:679,680...716,801
Ensembl chrNW_004936713:701,155...716,650
JBrowse link
G Il23r interleukin 23 receptor no_association ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs11209026(human)
DNA:SNPs,haplotype:multiple:
CTD
RGD
PMID:17952073 PMID:19522770 PMID:19877036 PMID:20062062 RGD:8549549 RGD:8549630 NCBI chrNW_004936591:4,365,598...4,425,053
Ensembl chrNW_004936591:4,365,762...4,425,005
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum: RGD PMID:26339141 RGD:12792209 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Irak1 interleukin 1 receptor associated kinase 1 susceptibility ISO DNA:SNP:enhancer: (rs3027898) (human) RGD PMID:20500689 RGD:7495783 NCBI chrNW_004936809:891,407...900,311
Ensembl chrNW_004936809:890,717...900,326
JBrowse link
G Jak2 Janus kinase 2 susceptibility ISO DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human) RGD PMID:20627814 RGD:6483025 NCBI chrNW_004936503:111,722...243,627
Ensembl chrNW_004936503:110,963...241,867
JBrowse link
G Kdm5a lysine demethylase 5A susceptibility ISO DNA:snps:intron:IVST>A, IVS-1467C>T, IVS+828T>C (rs7134353, rs2284336, rs11062357) (human) RGD PMID:24069348 RGD:9588532 NCBI chrNW_004936606:486,424...570,546
Ensembl chrNW_004936606:485,655...570,739
JBrowse link
G LOC101955076 low affinity immunoglobulin gamma Fc region receptor III-A severity ISO protein:decreased expression:polymorphonuclear leucocyte RGD PMID:8453794 RGD:5508388 NCBI chrNW_004937131:42,523...49,533 JBrowse link
G LOC101968921 angiotensin-converting enzyme susceptibility ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:22876137 RGD:7829800 NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177
JBrowse link
G LOC101969148 cytochrome P450 1A1 ISO DNA:polymorphism: :4887C>A (human) RGD PMID:12880680 RGD:1581252 NCBI chrNW_004936471:33,682,730...33,688,332
Ensembl chrNW_004936471:33,682,730...33,688,332
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:677C>T (human) RGD PMID:25060515 RGD:42722610 NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193
JBrowse link
G Pgf placental growth factor ISO RGD PMID:21873332 RGD:6483576 NCBI chrNW_004936488:4,098,187...4,111,108
Ensembl chrNW_004936488:4,098,225...4,111,142
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO DNA: snp: rs17587 RGD PMID:22034108 RGD:6483349 NCBI chrNW_004936476:25,894,313...25,899,132
Ensembl chrNW_004936476:25,894,027...25,899,319
JBrowse link
G Ptger4 prostaglandin E receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21743469 RGD:6483530 NCBI chrNW_004936518:1,903,636...1,916,746
Ensembl chrNW_004936518:1,903,725...1,916,746
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chrNW_004936474:9,751,946...9,802,910
Ensembl chrNW_004936474:9,751,946...9,802,910
JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chrNW_004936476:25,899,514...25,907,690
Ensembl chrNW_004936476:25,899,339...25,907,695
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chrNW_004936476:25,913,699...25,923,419
Ensembl chrNW_004936476:25,913,663...25,923,427
JBrowse link
G Tbkbp1 TBK1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chrNW_004936490:13,579,523...13,596,325
Ensembl chrNW_004936490:13,580,915...13,594,582
JBrowse link
G Thbd thrombomodulin ISO protein:increased expression:serum RGD PMID:21556780 RGD:5684983 NCBI chrNW_004936620:2,563,900...2,568,117 JBrowse link
G Tlr4 toll like receptor 4 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chrNW_004936487:6,519,140...6,532,018
Ensembl chrNW_004936487:6,518,441...6,533,095
JBrowse link
G Tlr5 toll like receptor 5 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chrNW_004936526:383,490...387,007
Ensembl chrNW_004936526:383,418...401,552
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO RGD PMID:21317434 RGD:5131280 NCBI chrNW_004936474:908,414...935,765
Ensembl chrNW_004936474:908,485...934,177
JBrowse link
G Vip vasoactive intestinal peptide ISO protein:increased expression:plasma RGD PMID:20340024 RGD:5685387 NCBI chrNW_004936489:5,425,778...5,434,483
Ensembl chrNW_004936489:5,425,726...5,434,785
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14590
    disease of anatomical entity 14249
      musculoskeletal system disease 7559
        autoimmune disease of musculoskeletal system 855
          ankylosing spondylitis 33
            ankylosing spondylitis 1 0
            ankylosing spondylitis 2 0
            ankylosing spondylitis 3 0
            juvenile ankylosing spondylitis 0
Path 2
Term Annotations click to browse term
  disease 14590
    disease of anatomical entity 14249
      Skin and Connective Tissue Diseases 6692
        connective tissue disease 5182
          bone disease 3789
            bone inflammation disease 1290
              arthropathy 1270
                spondyloarthropathy 60
                  spondylitis 40
                    ankylosing spondylitis 33
                      ankylosing spondylitis 1 0
                      ankylosing spondylitis 2 0
                      ankylosing spondylitis 3 0
                      juvenile ankylosing spondylitis 0
paths to the root