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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:A bone inflammation disease 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 ACE angiotensin I converting enzyme susceptibility ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:22876137 RGD:7829800 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21122270 RGD:5686891 NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844 		JBrowse link
G ANO6 anoctamin 6 severity ISO DNA:SNP: :rs17095830(human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:22138694 PMID:23308121 RGD:9684849 NCBI chr27:8,882,691...9,067,057
Ensembl chr27:8,884,062...9,066,934 		JBrowse link
G ANTXR2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 PMID:21743469 NCBI chr32:4,143,407...4,302,194
Ensembl chr32:4,148,310...4,302,071 		JBrowse link
G ASPN asporin susceptibility ISO DNA:repeats:exon: RGD PMID:20144272 RGD:9684964 NCBI chr 1:98,881,610...98,905,641
Ensembl chr 1:98,881,690...98,904,945 		JBrowse link
G CARD9 caspase recruitment domain family member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 9:49,110,913...49,120,758
Ensembl chr 9:49,113,923...49,120,591 		JBrowse link
G CRP C-reactive protein disease_progression ISO protein:increased expression:serum: RGD PMID:6605119 PMID:22422197 RGD:6482308 RGD:9491788 NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO DNA:polymorphism: :4887C>A (human) RGD PMID:12880680 RGD:1581252 NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866 		JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 severity ISO DNA:polymorphism:cds:HLA-DQB1*0603 (human) RGD PMID:19565552 RGD:5147611 NCBI chr12:2,305,307...2,307,711 JBrowse link
G DLA-DRB1 MHC class II DLA DRB1 beta chain severity ISO DNA:polymorphisms:cds:HLA-DRB1*0801, HLA-DRB1*0804 (human) RGD PMID:19565552 RGD:5147611 NCBI chr12:2,151,409...2,164,564 JBrowse link
G DLA88 MHC class I DLA-88 susceptibility
no_association		 ISO DNA:polymorphisms:cds:HLA-B27, HLA-B60 (human, Caucasian)
DNA:polymorphism:cds:HLA-B2705 (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:8053961 PMID:8733445 PMID:21743469 PMID:21927904 PMID:22138694 RGD:10755579 RGD:7364914 NCBI chr12:892,442...895,691
Ensembl chr12:892,388...1,021,690 		JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17952073 PMID:20062062 PMID:21743469 PMID:23291587 NCBI chr 3:12,879,823...12,920,710
Ensembl chr 3:12,879,477...12,919,634 		JBrowse link
G ERAP2 endoplasmic reticulum aminopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33550689 NCBI chr 3:12,780,084...12,819,795
Ensembl chr 3:12,781,849...12,817,025 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO protein:decreased expression:serum RGD PMID:9851264 RGD:10402573 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392 		JBrowse link
G IL12B interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 4:51,178,637...51,194,606
Ensembl chr 4:51,183,568...51,193,228 		JBrowse link
G IL17A interleukin 17A treatment ISO RGD PMID:24035250 RGD:9068448 NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513 		JBrowse link
G IL1R2 interleukin 1 receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 NCBI chr10:40,967,532...41,003,659
Ensembl chr10:40,896,669...41,034,113 		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 chr 5:43,307,422...43,369,806
Ensembl chr 5:43,308,982...43,368,474 		JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:serum: RGD PMID:26339141 RGD:12792209 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 susceptibility ISO DNA:SNP:enhancer: (rs3027898) (human) RGD PMID:20500689 RGD:7495783 NCBI chr  X:121,853,340...121,862,582
Ensembl chr  X:121,819,432...121,862,576 		JBrowse link
G JAK2 Janus kinase 2 susceptibility ISO DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human) RGD PMID:20627814 RGD:6483025 NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997 		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 chr27:42,364,606...42,447,839
Ensembl chr27:42,360,456...42,447,821 		JBrowse link
G LOC478984 low affinity immunoglobulin gamma Fc region receptor III severity ISO protein:decreased expression:polymorphonuclear leucocyte RGD PMID:8453794 RGD:5508388 NCBI chr38:21,054,870...21,060,948 JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:677C>T (human) RGD PMID:25060515 RGD:42722610 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
G PGF placental growth factor ISO RGD PMID:21873332 RGD:6483576 NCBI chr 8:48,059,554...48,110,534
Ensembl chr 8:48,059,552...48,075,170 		JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO DNA: snp: rs17587 RGD PMID:22034108 RGD:6483349 NCBI chr12:2,432,287...2,438,920
Ensembl chr12:2,432,505...2,438,069 		JBrowse link
G PTGER4 prostaglandin E receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:21743469 RGD:6483530 NCBI chr 4:68,663,362...68,676,241
Ensembl chr 4:68,663,364...68,676,358 		JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469
G TAP1 transporter 1, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr12:2,424,049...2,432,165
Ensembl chr12:2,378,126...2,432,303 		JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303 		JBrowse link
G TBKBP1 TBK1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 9:24,040,484...24,055,038
Ensembl chr 9:24,039,766...24,042,034 		JBrowse link
G THBD thrombomodulin ISO protein:increased expression:serum RGD PMID:21556780 RGD:5684983 NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649 		JBrowse link
G TLR4 toll like receptor 4 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165 		JBrowse link
G TLR5 toll like receptor 5 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr38:23,700,323...23,705,628
Ensembl chr38:23,702,033...23,705,314 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO RGD PMID:21317434 RGD:5131280 NCBI chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191 		JBrowse link
G VIP vasoactive intestinal peptide ISO protein:increased expression:plasma RGD PMID:20340024 RGD:5685387 NCBI chr 1:42,941,655...42,950,160
Ensembl chr 1:42,941,224...42,950,700 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15715
    disease of anatomical entity 15304
      musculoskeletal system disease 7937
        autoimmune disease of musculoskeletal system 900
          ankylosing spondylitis 36
            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 15715
    disease of anatomical entity 15304
      Skin and Connective Tissue Diseases 7061
        connective tissue disease 5464
          bone disease 3954
            bone inflammation disease 1345
              arthropathy 1325
                spondyloarthropathy 66
                  spondylitis 43
                    ankylosing spondylitis 36
                      ankylosing spondylitis 1 0
                      ankylosing spondylitis 2 0
                      ankylosing spondylitis 3 0
                      juvenile ankylosing spondylitis 0
paths to the root