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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_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402 		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 chrNW_004955500:4,462,314...4,652,634
Ensembl chrNW_004955500:4,462,524...4,652,782 		JBrowse link
G Antxr2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 PMID:21743469 NCBI chrNW_004955433:4,212,729...4,345,611
Ensembl chrNW_004955433:4,212,729...4,345,066 		JBrowse link
G Aspn asporin susceptibility ISO DNA:repeats:exon: RGD PMID:20144272 RGD:9684964 NCBI chrNW_004955515:5,322,074...5,345,715
Ensembl chrNW_004955515:5,321,943...5,345,894 		JBrowse link
G Card9 caspase recruitment domain family member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chrNW_004955513:4,350,873...4,359,345
Ensembl chrNW_004955513:4,350,147...4,359,345 		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_004955418:15,827,560...15,859,720
Ensembl chrNW_004955418:15,830,371...15,859,720 		JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 ISO protein:decreased expression:serum RGD PMID:9851264 RGD:10402573 NCBI chrNW_004955456:6,795,560...6,802,147
Ensembl chrNW_004955456:6,795,604...6,800,845 		JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chrNW_004955408:13,302,506...13,316,300
Ensembl chrNW_004955408:13,304,219...13,312,620 		JBrowse link
G Il17a interleukin 17A treatment ISO RGD PMID:24035250 RGD:9068448 NCBI chrNW_004955411:5,896,435...5,899,911
Ensembl chrNW_004955411:5,896,702...5,900,962 		JBrowse link
G Il1r2 interleukin 1 receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 NCBI chrNW_004955470:7,518,565...7,562,219
Ensembl chrNW_004955470:7,518,663...7,559,470 		JBrowse link
G Il23r interleukin 23 receptor no_association ISO DNA:SNPs,haplotype:multiple:
DNA:SNP: :rs11209026(human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:17952073 PMID:19522770 PMID:19877036 PMID:20062062 RGD:8549549 RGD:8549630 NCBI chrNW_004955423:23,841,342...23,885,191
Ensembl chrNW_004955423:23,842,475...23,884,904 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum: RGD PMID:26339141 RGD:12792209 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Irak1 interleukin 1 receptor associated kinase 1 susceptibility ISO DNA:SNP:enhancer: (rs3027898) (human) RGD PMID:20500689 RGD:7495783 NCBI chrNW_004955580:663,651...668,622
Ensembl chrNW_004955580:661,609...668,622 		JBrowse link
G Jak2 Janus kinase 2 susceptibility ISO DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human) RGD PMID:20627814 RGD:6483025 NCBI chrNW_004955434:9,227,897...9,341,208
Ensembl chrNW_004955434:9,227,595...9,341,208 		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_004955454:6,774,308...6,865,047
Ensembl chrNW_004955454:6,774,476...6,865,033 		JBrowse link
G LOC102010850 cytochrome P450 1A1 ISO DNA:polymorphism: :4887C>A (human) RGD PMID:12880680 RGD:1581252 NCBI chrNW_004955450:3,183,958...3,189,488
Ensembl chrNW_004955450:3,183,750...3,189,488 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:677C>T (human) RGD PMID:25060515 RGD:42722610 NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240 		JBrowse link
G Pgf placental growth factor ISO RGD PMID:21873332 RGD:6483576 NCBI chrNW_004955523:616,196...627,055
Ensembl chrNW_004955523:616,154...627,713 		JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO DNA: snp: rs17587 RGD PMID:22034108 RGD:6483349 NCBI chrNW_004955437:1,513,425...1,516,164
Ensembl chrNW_004955437:1,513,418...1,516,164 		JBrowse link
G Ptger4 prostaglandin E receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:21743469 RGD:6483530 NCBI chrNW_004955426:24,997,811...25,010,822
Ensembl chrNW_004955426:24,997,811...25,010,822 		JBrowse link
G Runx3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chrNW_004955452:4,580,444...4,606,820
Ensembl chrNW_004955452:4,579,331...4,636,884 		JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chrNW_004955437:1,504,549...1,511,110
Ensembl chrNW_004955437:1,504,947...1,511,097 		JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chrNW_004955437:1,480,217...1,499,032
Ensembl chrNW_004955437:1,477,341...1,498,575 		JBrowse link
G Tbkbp1 TBK1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chrNW_004955451:13,344,661...13,358,590 JBrowse link
G Thbd thrombomodulin ISO protein:increased expression:serum RGD PMID:21556780 RGD:5684983 NCBI chrNW_004955415:30,222,830...30,226,406 JBrowse link
G Tlr4 toll like receptor 4 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135 		JBrowse link
G Tlr5 toll like receptor 5 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chrNW_004955520:1,544,840...1,562,081
Ensembl chrNW_004955520:1,556,523...1,559,093 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO RGD PMID:21317434 RGD:5131280 NCBI chrNW_004955486:1,790,531...1,817,986
Ensembl chrNW_004955486:1,792,115...1,818,362 		JBrowse link
G Vip vasoactive intestinal peptide ISO protein:increased expression:plasma RGD PMID:20340024 RGD:5685387 NCBI chrNW_004955439:9,021,923...9,031,783
Ensembl chrNW_004955439:9,021,904...9,031,792 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14291
    disease of anatomical entity 13955
      musculoskeletal system disease 7428
        autoimmune disease of musculoskeletal system 833
          ankylosing spondylitis 29
            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 14291
    disease of anatomical entity 13955
      Skin and Connective Tissue Diseases 6561
        connective tissue disease 5088
          bone disease 3711
            bone inflammation disease 1249
              arthropathy 1230
                spondyloarthropathy 56
                  spondylitis 36
                    ankylosing spondylitis 29
                      ankylosing spondylitis 1 0
                      ankylosing spondylitis 2 0
                      ankylosing spondylitis 3 0
                      juvenile ankylosing spondylitis 0
paths to the root