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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 Ace angiotensin I converting enzyme susceptibility ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:22876137 RGD:7829800 NCBI chr10:91,410,129...91,430,246
Ensembl chr10:91,409,819...91,430,942
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21122270 RGD:5686891 NCBI chr11:91,226,524...91,240,244
Ensembl chr11:91,226,180...91,240,169
JBrowse link
G Ano6 anoctamin 6 severity ISO DNA:SNP: :rs17095830(human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:22138694 PMID:23308121 RGD:9684849 NCBI chr 7:128,812,842...128,992,805
Ensembl chr 7:128,813,068...128,992,799
JBrowse link
G Antxr2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 PMID:21743469 NCBI chr14:11,845,774...11,986,166
Ensembl chr14:11,845,700...11,986,168
JBrowse link
G Aspn asporin susceptibility ISO DNA:repeats:exon: RGD PMID:20144272 RGD:9684964 NCBI chr17:15,286,338...15,310,567
Ensembl chr17:15,287,065...15,310,632
JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 3:29,569,907...29,578,402
Ensembl chr 3:29,569,959...29,578,402
JBrowse link
G Crp C-reactive protein disease_progression ISO protein:increased expression:serum: RGD PMID:22422197 PMID:6605119 RGD:6482308, RGD:9491788 NCBI chr13:87,694,062...87,695,978
Ensembl chr13:87,657,317...87,707,514
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO DNA:polymorphism: :4887C>A (human) RGD PMID:12880680 RGD:1581252 NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:66,991,970...66,998,012
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 2:5,666,337...5,705,256
Ensembl chr 2:5,666,436...5,740,056
JBrowse link
G Fcgr3a Fc gamma receptor 3A severity ISO protein:decreased expression:polymorphonuclear leucocyte RGD PMID:8453794 RGD:5508388 NCBI chr13:85,782,636...85,792,656
Ensembl chr13:85,782,490...85,792,651
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:decreased expression:serum RGD PMID:9851264 RGD:10402573 NCBI chr14:86,270,208...86,277,944
Ensembl chr14:86,270,208...86,277,944
JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr10:29,390,300...29,405,194
Ensembl chr10:29,389,905...29,405,194
JBrowse link
G Il17a interleukin 17A treatment ISO RGD PMID:24035250 RGD:9068448 NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:30,640,844...30,644,331
JBrowse link
G Il1r2 interleukin 1 receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 NCBI chr 9:49,879,928...49,920,374
Ensembl chr 9:49,877,266...49,920,374
JBrowse link
G Il23r interleukin 23 receptor no_association ISO DNA:SNPs,haplotype:multiple:
DNA:SNP: :rs11209026(human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17952073 PMID:20062062 PMID:19522770 PMID:19877036 RGD:8549549, RGD:8549630 NCBI chr 4:97,910,230...98,003,759
Ensembl chr 4:97,909,972...98,004,110
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum: RGD PMID:26339141 RGD:12792209 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610
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:156,919,927...156,929,825
Ensembl chr  X:156,920,081...156,929,825
JBrowse link
G Jak2 Janus kinase 2 susceptibility ISO DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human) RGD PMID:20627814 RGD:6483025 NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:236,408,662...236,468,762
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 chr 4:155,238,124...155,316,121
Ensembl chr 4:155,238,044...155,316,121
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:677C>T (human) RGD PMID:25060515 RGD:42722610 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105
JBrowse link
G Pgf placental growth factor ISO RGD PMID:21873332 RGD:6483576 NCBI chr 6:110,547,165...110,557,747
Ensembl chr 6:110,547,153...110,557,747
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO DNA: snp: rs17587 RGD PMID:22034108 RGD:6483349 NCBI chr20:4,668,952...4,674,421
Ensembl chr20:4,668,739...4,674,421
JBrowse link
G Ptger4 prostaglandin E receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21743469 PMID:21743469 RGD:6483530 NCBI chr 2:56,061,699...56,074,594
Ensembl chr 2:56,062,890...56,074,135
JBrowse link
G RT1-Ba RT1 class II, locus Ba severity ISO DNA:polymorphism:cds:HLA-DQA1*0401 (human) RGD PMID:19565552 RGD:5147611 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653
JBrowse link
G RT1-Bb RT1 class II, locus Bb severity ISO DNA:polymorphism:cds:HLA-DQB1*0603 (human) RGD PMID:19565552 RGD:5147611 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 susceptibility ISO DNA:polymorphisms:cds:HLA-B27, HLA-B60 (human, Caucasian) RGD PMID:8733445 RGD:7364914 NCBI chr20:3,314,491...3,322,815 JBrowse link
G RT1-Db1 RT1 class II, locus Db1 severity ISO DNA:polymorphisms:cds:HLA-DRB1*0801, HLA-DRB1*0804 (human) RGD PMID:19565552 RGD:5147611 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165
JBrowse link
G RT1-M5 RT1 class Ib, locus M5 no_association ISO DNA:polymorphisms:cds:HLA-B2705 (human) RGD PMID:21927904 RGD:10755579 NCBI chr20:1,551,751...1,554,015
Ensembl chr20:1,549,836...1,558,362
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 5:152,644,270...152,702,835
Ensembl chr 5:152,644,270...152,702,835
JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr20:4,658,171...4,668,543
Ensembl chr20:4,658,172...4,668,810
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr20:4,638,257...4,652,296
Ensembl chr20:4,638,257...4,651,537
JBrowse link
G Tbkbp1 TBK1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr10:82,616,978...82,632,169
Ensembl chr10:82,616,984...82,631,153
JBrowse link
G Thbd thrombomodulin ISO protein:increased expression:serum RGD PMID:21556780 RGD:5684983 NCBI chr 3:156,316,526...156,320,178
Ensembl chr 3:156,306,632...156,320,582
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007
JBrowse link
G Tlr5 toll-like receptor 5 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr13:97,166,430...97,190,642
Ensembl chr13:97,166,405...97,192,525
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO RGD PMID:21317434 RGD:5131280 NCBI chr 5:162,356,250...162,387,411
Ensembl chr 5:162,353,848...162,387,411
JBrowse link
G Vip vasoactive intestinal peptide ISO protein:increased expression:plasma RGD PMID:20340024 RGD:5685387 NCBI chr 1:44,470,232...44,478,561
Ensembl chr 1:44,470,462...44,478,558
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    disease of anatomical entity 18459
      musculoskeletal system disease 8480
        autoimmune disease of musculoskeletal system 1004
          ankylosing spondylitis 37
            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 19150
    disease of anatomical entity 18459
      Skin and Connective Tissue Diseases 7795
        connective tissue disease 5931
          bone disease 4372
            bone inflammation disease 1563
              arthropathy 1542
                spondyloarthropathy 67
                  spondylitis 44
                    ankylosing spondylitis 37
                      ankylosing spondylitis 1 0
                      ankylosing spondylitis 2 0
                      ankylosing spondylitis 3 0
                      juvenile ankylosing spondylitis 0
paths to the root