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
Accession: DOID:9007047
browse the term
Definition: Bone diseases caused by pathogenic microorganisms.
Synonyms: exact_synonym: Infectious Bone Disease
primary_id: MESH:D001850
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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
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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
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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 chr 5:76,112,428...76,337,073
Ensembl chr 5:76,113,236...76,337,069
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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
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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
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CARD9
caspase recruitment domain family member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21743469
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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
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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
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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 chr 2:103,378,428...103,415,066
Ensembl chr 2:103,378,429...103,408,759
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 chr 5:67,628,791...67,716,143
Ensembl chr 5:67,629,380...67,715,905
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:19280228 PMID:19494218 PMID:19494219 PMID:19729864 PMID:20213597 PMID:20842532 PMID:21279638 PMID:21792839 PMID:22032624 PMID:22127713 PMID:22940634 PMID:23698098 PMID:24033266 PMID:24863340 PMID:25501066 PMID:25741868 PMID:26100510 PMID:28236224 PMID:28492532 PMID:32819369 More...
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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
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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
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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
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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
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LPIN2
lipin 2
ISO
ClinVar Annotator: match by term: Majeed syndrome
OMIM ClinVar
PMID:2809904 PMID:9536098 PMID:10969284 PMID:11795677 PMID:15994876 PMID:16199547 PMID:17330256 PMID:17576681 PMID:18409191 PMID:19717560 PMID:20032092 PMID:20301735 PMID:20645851 PMID:23087183 PMID:24033266 PMID:25525159 PMID:25741868 PMID:26386126 PMID:27860302 PMID:28492532 PMID:28600779 PMID:29387759 PMID:31598604 PMID:31727123 PMID:33314777 PMID:33670882 More...
NCBI chr 6:103,625,725...103,728,151
Ensembl chr 6:103,687,743...103,728,148
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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