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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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ankylosing spondylitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 susceptibility ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:22876137 RGD:7829800 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21122270 RGD:5686891 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646
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 chr 5:76,112,428...76,337,073
Ensembl chr 5:76,113,236...76,337,069
JBrowse link
G ANTXR2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 PMID:21743469 NCBI chr 8:137,728,849...137,878,336
Ensembl chr 8:137,618,616...137,878,333
JBrowse link
G ASPN asporin susceptibility ISO DNA:repeats:exon: RGD PMID:20144272 RGD:9684964 NCBI chr 3:42,165,553...42,192,902
Ensembl chr 3:42,165,561...42,192,813
JBrowse link
G CARD9 caspase recruitment domain family member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469
G CRP C-reactive protein, pentraxin-related disease_progression ISO protein:increased expression:serum: RGD PMID:6605119 PMID:22422197 RGD:6482308 RGD:9491788 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO DNA:polymorphism: :4887C>A (human) RGD PMID:12880680 RGD:1581252 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775
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 2:103,378,428...103,415,066
Ensembl chr 2:103,378,429...103,408,759
JBrowse link
G ERAP2 endoplasmic reticulum aminopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33550689 NCBI chr 2:103,510,425...103,563,482
Ensembl chr 2:103,510,441...103,564,437
JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa severity ISO protein:decreased expression:polymorphonuclear leucocyte RGD PMID:8453794 RGD:5508388 NCBI chr 4:88,948,357...88,956,513 JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO protein:decreased expression:serum RGD PMID:9851264 RGD:10402573 NCBI chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690
JBrowse link
G IL12B interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr16:64,143,268...64,158,929
Ensembl chr16:64,143,268...64,158,929
JBrowse link
G IL17A interleukin 17A treatment ISO RGD PMID:24035250 RGD:9068448 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
JBrowse link
G IL1R2 interleukin 1 receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 NCBI chr 3:52,367,434...52,406,393
Ensembl chr 3:52,367,437...52,406,334
JBrowse link
G IL23R interleukin 23 receptor no_association ISO DNA:SNPs,haplotype:multiple:
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs11209026(human)
RGD
CTD
PMID:17952073 PMID:19522770 PMID:19877036 PMID:20062062 RGD:8549549 RGD:8549630 NCBI chr 6:145,337,765...145,401,909
Ensembl chr 6:145,335,741...145,401,510
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:serum: RGD PMID:26339141 RGD:12792209 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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:124,717,604...124,724,855
Ensembl chr  X:124,717,612...124,724,860
JBrowse link
G JAK2 Janus kinase 2 susceptibility ISO DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human) RGD PMID:20627814 RGD:6483025 NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148
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 5:67,628,791...67,716,143
Ensembl chr 5:67,629,380...67,715,905
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:677C>T (human) RGD PMID:25060515 RGD:42722610 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820
JBrowse link
G PGF placental growth factor ISO RGD PMID:21873332 RGD:6483576 NCBI chr 7:98,149,510...98,162,784
Ensembl chr 7:98,148,994...98,162,741
JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO DNA: snp: rs17587 RGD PMID:22034108 RGD:6483349 NCBI chr 7:25,072,133...25,077,508
Ensembl chr 7:25,062,367...25,077,523
JBrowse link
G PTGER4 prostaglandin E receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21743469 RGD:6483530 NCBI chr16:25,670,832...25,686,556
Ensembl chr16:25,670,862...25,686,552
JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 6:82,531,203...82,595,044
Ensembl chr 6:82,531,559...82,595,026
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr 7:25,062,772...25,071,989
Ensembl chr 7:25,062,771...25,074,843
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr 7:25,045,085...25,056,915
Ensembl chr 7:25,045,685...25,056,300
JBrowse link
G TBKBP1 TBK1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr12:23,952,966...23,971,495
Ensembl chr12:23,954,605...23,971,494
JBrowse link
G THBD thrombomodulin ISO protein:increased expression:serum RGD PMID:21556780 RGD:5684983 NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,217,303...30,224,099
JBrowse link
G TLR4 toll like receptor 4 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
JBrowse link
G TLR5 toll like receptor 5 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr10:19,387,666...19,410,024
Ensembl chr10:19,387,666...19,410,024
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO RGD PMID:21317434 RGD:5131280 NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,147
JBrowse link
G VIP vasoactive intestinal peptide ISO protein:increased expression:plasma RGD PMID:20340024 RGD:5685387 NCBI chr 1:13,611,786...13,620,250
Ensembl chr 1:13,611,311...13,620,269
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 chr 3:86,945,635...87,231,376
Ensembl chr 3:86,945,647...87,109,139
JBrowse link
G IL1R1 interleukin 1 receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:52,192,912...52,334,734
Ensembl chr 3:52,192,915...52,288,485
JBrowse link
G MLKL mixed lineage kinase domain like pseudokinase ISO ClinVar Annotator: match by term: Chronic multifocal osteomyelitis ClinVar NCBI chr 6:12,923,846...12,951,176
Ensembl chr 6:12,924,894...12,951,173
JBrowse link
G MYNN myoneurin ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr13:108,435,194...108,452,699
Ensembl chr13:108,435,324...108,457,226
JBrowse link
G PSTPIP2 proline-serine-threonine phosphatase interacting protein 2 ISO OMIM:259680 MouseDO NCBI chr 1:95,631,456...95,727,827
Ensembl chr 1:95,631,456...95,727,782
JBrowse link
G TERT telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar PMID:16890917 PMID:28492532 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
JBrowse link
G ZBTB46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr17:62,659,779...62,715,221
Ensembl chr17:62,659,786...62,709,235
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 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...
G NFKBIA NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277
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 chr 3:52,192,912...52,334,734
Ensembl chr 3:52,192,915...52,288,485
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 chr 6:103,730,618...103,786,921
Ensembl chr 6:103,730,626...103,786,927
JBrowse link
G LOC733637 myosin regulatory light chain 2 protein ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 6:103,413,841...103,424,790
Ensembl chr 6:103,409,717...103,420,286
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 chr 6:103,625,725...103,728,151
Ensembl chr 6:103,687,743...103,728,148
JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 6:103,451,206...103,593,093
Ensembl chr 6:103,451,343...103,597,297
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 chr 6:103,809,732...103,986,057
Ensembl chr 6:103,808,066...103,965,335
JBrowse link
G TGIF1 TGFB induced factor homeobox 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 6:103,226,395...103,234,591
Ensembl chr 6:103,226,402...103,234,610
JBrowse link
mastoiditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRP C-reactive protein, pentraxin-related disease_progression ISO RGD PMID:22578647 RGD:9491592 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
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 chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469
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 chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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 chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
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 chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
JBrowse link
G DUSP1 dual specificity phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr16:51,457,924...51,461,095
Ensembl chr16:51,458,020...51,461,086
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
JBrowse link
G LRP5 LDL receptor related protein 5 susceptibility ISO DNA:polymorphism:cds:p.Q89R(human) RGD PMID:17202888 RGD:12792278 NCBI chr 2:4,533,721...4,653,997
Ensembl chr 2:4,533,614...4,653,944
JBrowse link
G SKP2 S-phase kinase associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr16:21,463,270...21,500,925
Ensembl chr16:21,463,012...21,509,310
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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 chr 1:126,837,721...126,844,043
Ensembl chr 1:126,835,143...126,981,582
JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:serum (rat) RGD PMID:21905004 RGD:9068946 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
JBrowse link
G PSMB9 proteasome 20S subunit beta 9 no_association ISO RGD PMID:9496154 PMID:15603870 RGD:6483462 RGD:6483495 NCBI chr 7:25,072,133...25,077,508
Ensembl chr 7:25,062,367...25,077,523
JBrowse link
G RUNX2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr 7:40,106,581...40,353,304
Ensembl chr 7:40,106,532...40,460,687
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15347
    disease of anatomical entity 15038
      musculoskeletal system disease 7866
        bone disease 3911
          Infectious Bone Diseases 57
            osteomyelitis + 19
            periostitis + 2
            skeletal tuberculosis + 0
            spondylitis + 40
Path 2
Term Annotations click to browse term
  disease 15347
    disease of anatomical entity 15038
      musculoskeletal system disease 7866
        connective tissue disease 5413
          bone disease 3911
            Infectious Bone Diseases 57
              osteomyelitis + 19
              periostitis + 2
              skeletal tuberculosis + 0
              spondylitis + 40
paths to the root