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
Accession: DOID:7147
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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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Il6
interleukin 6
ISO
protein:increased expression:serum:
RGD
PMID:26339141
RGD:12792209
NCBI chrNW_004936549:7,015,595...7,016,246
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Thbd
thrombomodulin
ISO
protein:increased expression:serum
RGD
PMID:21556780
RGD:5684983
NCBI chrNW_004936620:2,563,900...2,568,117
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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
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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
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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
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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
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