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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:Infectious Bone Diseases
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Accession:DOID:9007047 term browser browse the term
Definition:Bone diseases caused by pathogenic microorganisms.
Synonyms:exact_synonym: Infectious Bone Disease
 primary_id: MESH:D001850

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show annotations for term's descendants           Sort by:
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
chronic recurrent multifocal osteomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acyp2 acylphosphatase 2 ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chrNW_004936491:615,515...770,636
Ensembl chrNW_004936491:615,666...771,199 		JBrowse link
G Il1r1 interleukin 1 receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936713:808,761...881,070
Ensembl chrNW_004936713:808,659...881,076 		JBrowse link
G Mlkl mixed lineage kinase domain like pseudokinase ISO ClinVar Annotator: match by term: Chronic multifocal osteomyelitis ClinVar NCBI chrNW_004936475:23,591,483...23,618,152
Ensembl chrNW_004936475:23,591,493...23,618,660 		JBrowse link
G Mynn myoneurin ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chrNW_004936593:2,629,750...2,645,211
Ensembl chrNW_004936593:2,629,794...2,645,258 		JBrowse link
G Pstpip2 proline-serine-threonine phosphatase interacting protein 2 ISO OMIM:259680 MouseDO NCBI chrNW_004936517:766,246...830,735
Ensembl chrNW_004936517:765,725...830,761 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar PMID:16890917 PMID:28492532 NCBI chrNW_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697 		JBrowse link
G Zbtb46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chrNW_004936514:10,987,728...11,027,450
Ensembl chrNW_004936514:10,987,984...11,027,502 		JBrowse link
Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1f10 interleukin 1 family member 10 ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar PMID:19494218 PMID:21792839 PMID:22940634 PMID:23698098 PMID:26100510 More... NCBI chrNW_004936783:1,414,359...1,416,715
Ensembl chrNW_004936783:1,414,359...1,416,715 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis OMIM
ClinVar		 PMID:9536098 PMID:12837270 PMID:16199547 PMID:16519819 PMID:17576681 More... NCBI chrNW_004936783:1,447,158...1,466,331
Ensembl chrNW_004936783:1,447,106...1,466,340 		JBrowse link
G Il36rn interleukin 36 receptor antagonist ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar PMID:19494218 PMID:21792839 PMID:22940634 PMID:23698098 PMID:26100510 More... NCBI chrNW_004936783:1,396,720...1,404,416
Ensembl chrNW_004936783:1,401,482...1,404,416 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar NCBI chrNW_004936494:9,537,793...9,541,187
Ensembl chrNW_004936494:9,537,008...9,541,612 		JBrowse link
Chronic recurrent multifocal osteomyelitis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1r1 interleukin 1 receptor type 1 ISO ClinVar Annotator: match by term: Chronic recurrent multifocal osteomyelitis 3 OMIM
ClinVar		 NCBI chrNW_004936713:808,761...881,070
Ensembl chrNW_004936713:808,659...881,076 		JBrowse link
Majeed Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emilin2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:15994876 PMID:23087183 PMID:28492532 NCBI chrNW_004936672:1,607,914...1,661,531
Ensembl chrNW_004936672:1,609,193...1,661,528 		JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Majeed syndrome OMIM
ClinVar		 PMID:2809904 PMID:9536098 PMID:10969284 PMID:11795677 PMID:15994876 More... NCBI chrNW_004936672:1,550,865...1,606,268
Ensembl chrNW_004936672:1,568,732...1,602,931 		JBrowse link
G Myl12b myosin light chain 12B ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chrNW_004936672:1,303,510...1,321,969
Ensembl chrNW_004936672:1,300,341...1,322,065 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chrNW_004936672:1,351,053...1,481,954
Ensembl chrNW_004936672:1,351,002...1,482,124 		JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:15994876 PMID:23087183 PMID:28492532 NCBI chrNW_004936672:1,686,070...1,838,315
Ensembl chrNW_004936672:1,685,734...1,838,315 		JBrowse link
G Tgif1 TGFB induced factor homeobox 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chrNW_004936672:1,128,104...1,135,844
Ensembl chrNW_004936672:1,128,108...1,136,292 		JBrowse link
mastoiditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crp C-reactive protein disease_progression ISO RGD PMID:22578647 RGD:9491592 NCBI chrNW_004936740:885,855...888,854
Ensembl chrNW_004936740:883,272...890,606 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 NCBI chrNW_004936599:3,800,142...3,810,583
Ensembl chrNW_004936599:3,801,636...3,809,813 		JBrowse link
G Tlr2 toll like receptor 2 ISO protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 NCBI chrNW_004936576:522,234...531,660
Ensembl chrNW_004936576:527,434...529,788 		JBrowse link
G Tlr4 toll like receptor 4 ISO protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 NCBI chrNW_004936487:6,519,140...6,532,018
Ensembl chrNW_004936487:6,518,441...6,533,095 		JBrowse link
Spine Osteoarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dusp1 dual specificity phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chrNW_004936609:2,688,170...2,691,057
Ensembl chrNW_004936609:2,688,181...2,690,408 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G LOC101964975 interleukin-8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chrNW_004936598:1,779,471...1,781,353
Ensembl chrNW_004936598:1,779,471...1,781,353 		JBrowse link
G Lrp5 LDL receptor related protein 5 susceptibility ISO DNA:polymorphism:cds:p.Q89R(human) RGD PMID:17202888 RGD:12792278 NCBI chrNW_004936599:1,746,309...1,814,471
Ensembl chrNW_004936599:1,746,406...1,814,321 		JBrowse link
G Skp2 S-phase kinase associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chrNW_004936518:5,635,856...5,664,057
Ensembl chrNW_004936518:5,637,331...5,664,778 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		JBrowse link
Spondylarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2m beta-2-microglobulin ISO RGD PMID:16575857 RGD:6482692 NCBI chrNW_004936471:7,646,504...7,655,656
Ensembl chrNW_004936471:7,646,373...7,655,778 		JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:serum (rat) RGD PMID:21905004 RGD:9068946 NCBI chrNW_004936476:8,621,860...8,625,008
Ensembl chrNW_004936476:8,621,860...8,625,008 		JBrowse link
G Psmb9 proteasome 20S subunit beta 9 no_association ISO RGD PMID:9496154 PMID:15603870 RGD:6483462 RGD:6483495 NCBI chrNW_004936476:25,894,313...25,899,132
Ensembl chrNW_004936476:25,894,027...25,899,319 		JBrowse link
G Runx2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chrNW_004936476:14,695,965...14,818,246
Ensembl chrNW_004936476:14,695,965...14,905,157 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14569
    disease of anatomical entity 14271
      musculoskeletal system disease 7570
        bone disease 3796
          Infectious Bone Diseases 59
            osteomyelitis + 21
            periostitis + 4
            skeletal tuberculosis + 0
            spondylitis + 40
Path 2
Term Annotations click to browse term
  disease 14569
    disease of anatomical entity 14271
      musculoskeletal system disease 7570
        connective tissue disease 5191
          bone disease 3796
            Infectious Bone Diseases 59
              osteomyelitis + 21
              periostitis + 4
              skeletal tuberculosis + 0
              spondylitis + 40
paths to the root