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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_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
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_004955415:32,510,613...32,511,105 JBrowse link
G Il1r1 interleukin 1 receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955470:7,685,498...7,703,374 JBrowse link
G Mlkl mixed lineage kinase domain like pseudokinase ISO ClinVar Annotator: match by term: Chronic multifocal osteomyelitis ClinVar NCBI chrNW_004955484:2,793,092...2,819,481
Ensembl chrNW_004955484:2,796,995...2,818,844 		JBrowse link
G Mynn myoneurin ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chrNW_004955420:32,200...44,127
Ensembl chrNW_004955420:32,200...44,127 		JBrowse link
G Pstpip2 proline-serine-threonine phosphatase interacting protein 2 ISO OMIM:259680 MouseDO NCBI chrNW_004955402:31,538,335...31,637,901
Ensembl chrNW_004955402:31,536,822...31,637,512 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar PMID:16890917 PMID:28492532 NCBI chrNW_004955504:649,248...669,796
Ensembl chrNW_004955504:651,779...670,589 		JBrowse link
G Zbtb46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chrNW_004955528:438,826...485,484
Ensembl chrNW_004955528:438,859...475,543 		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_004955470:1,198,185...1,206,032
Ensembl chrNW_004955470:1,198,134...1,206,199 		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_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471 		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_004955470:1,209,389...1,214,730
Ensembl chrNW_004955470:1,209,325...1,214,821 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar NCBI chrNW_004955409:25,691,673...25,695,151
Ensembl chrNW_004955409:25,691,534...25,697,520 		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_004955470:7,685,498...7,703,374 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_004955402:7,507,674...7,519,978
Ensembl chrNW_004955402:7,508,159...7,519,977 		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_004955402:7,457,408...7,505,829
Ensembl chrNW_004955402:7,472,538...7,504,231 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chrNW_004955402:7,293,415...7,418,226
Ensembl chrNW_004955402:7,297,502...7,417,583 		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_004955402:7,544,265...7,661,191
Ensembl chrNW_004955402:7,544,265...7,649,067 		JBrowse link
G Tgif1 TGFB induced factor homeobox 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chrNW_004955402:7,130,809...7,138,945
Ensembl chrNW_004955402:7,129,484...7,138,340 		JBrowse link
mastoiditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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_004955422:19,602,930...19,612,263
Ensembl chrNW_004955422:19,603,345...19,611,516 		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_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258 		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_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135 		JBrowse link
Spine Osteoarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcl8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643 		JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chrNW_004955408:25,481,294...25,484,381
Ensembl chrNW_004955408:25,481,294...25,484,381 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Lrp5 LDL receptor related protein 5 susceptibility ISO DNA:polymorphism:cds:p.Q89R(human) RGD PMID:17202888 RGD:12792278 NCBI chrNW_004955422:17,394,371...17,475,244
Ensembl chrNW_004955422:17,394,371...17,505,763 		JBrowse link
G Skp2 S-phase kinase associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chrNW_004955426:20,972,663...20,999,769
Ensembl chrNW_004955426:20,972,663...20,999,769 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700 		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_004955416:11,205,503...11,211,325
Ensembl chrNW_004955416:11,204,849...11,215,568 		JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:serum (rat) RGD PMID:21905004 RGD:9068946 NCBI chrNW_004955411:5,896,435...5,899,911
Ensembl chrNW_004955411:5,896,702...5,900,962 		JBrowse link
G Psmb9 proteasome 20S subunit beta 9 no_association ISO RGD PMID:9496154 PMID:15603870 RGD:6483462 RGD:6483495 NCBI chrNW_004955437:1,513,425...1,516,164
Ensembl chrNW_004955437:1,513,418...1,516,164 		JBrowse link
G Runx2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chrNW_004955437:10,598,145...10,885,858
Ensembl chrNW_004955437:10,598,145...10,800,560 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14274
    disease of anatomical entity 13978
      musculoskeletal system disease 7438
        bone disease 3718
          Infectious Bone Diseases 54
            osteomyelitis + 19
            periostitis + 4
            skeletal tuberculosis + 0
            spondylitis + 36
Path 2
Term Annotations click to browse term
  disease 14274
    disease of anatomical entity 13978
      musculoskeletal system disease 7438
        connective tissue disease 5097
          bone disease 3718
            Infectious Bone Diseases 54
              osteomyelitis + 19
              periostitis + 4
              skeletal tuberculosis + 0
              spondylitis + 36
paths to the root