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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


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 ACE angiotensin I converting enzyme susceptibility ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:22876137 RGD:7829800 NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21122270 RGD:5686891 NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885 		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 chr12:43,295,928...43,512,073
Ensembl chr12:44,164,375...44,303,259 		JBrowse link
G ANTXR2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 PMID:21743469 NCBI chr 4:44,124,282...44,284,949
Ensembl chr 4:49,972,472...50,132,738 		JBrowse link
G ASPN asporin susceptibility ISO DNA:repeats:exon: RGD PMID:20144272 RGD:9684964 NCBI chr 9:63,579,188...63,605,811
Ensembl chr 9:91,651,629...91,677,969 		JBrowse link
G CARD9 caspase recruitment domain family member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 9:107,432,709...107,446,271
Ensembl chr 9:136,416,279...136,424,756 		JBrowse link
G CRP C-reactive protein disease_progression ISO protein:increased expression:serum: RGD PMID:6605119 PMID:22422197 RGD:6482308 RGD:9491788 NCBI chr 1:135,062,102...135,064,402 JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO DNA:polymorphism: :4887C>A (human) RGD PMID:12880680 RGD:1581252 NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636 		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 5:92,061,414...92,119,087
Ensembl chr 5:97,641,353...97,668,365 		JBrowse link
G ERAP2 endoplasmic reticulum aminopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33550689 NCBI chr 5:92,186,786...92,231,020
Ensembl chr 5:97,741,678...97,785,071 		JBrowse link
G FCGR3A Fc gamma receptor IIIa severity ISO protein:decreased expression:polymorphonuclear leucocyte RGD PMID:8453794 RGD:5508388 NCBI chr 1:137,027,943...137,036,738 JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO protein:decreased expression:serum RGD PMID:9851264 RGD:10402573 NCBI chr 7:46,564,234...46,573,145 JBrowse link
G IL12B interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 5:154,706,467...154,722,231
Ensembl chr 5:161,325,303...161,335,381 		JBrowse link
G IL17A interleukin 17A treatment ISO RGD PMID:24035250 RGD:9068448 NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074 		JBrowse link
G IL1R2 interleukin 1 receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 Ensembl chr2A:103,042,328...103,078,190 JBrowse link
G IL23R interleukin 23 receptor no_association ISO DNA:SNP: :rs11209026(human)
DNA:SNPs,haplotype:multiple:
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:17952073 PMID:19522770 PMID:19877036 PMID:20062062 RGD:8549549 RGD:8549630 NCBI chr 1:66,408,839...66,502,535
Ensembl chr 1:68,293,514...68,386,815 		JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:serum: RGD PMID:26339141 RGD:12792209 NCBI chr 7:23,415,922...23,420,767 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:143,560,802...143,570,185
Ensembl chr  X:153,446,827...153,460,602 		JBrowse link
G JAK2 Janus kinase 2 susceptibility ISO DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human) RGD PMID:20627814 RGD:6483025 NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626 		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 chr12:342,555...452,161
Ensembl chr12:319,273...423,634 		JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain severity ISO DNA:polymorphism:cds:HLA-DQB1*0603 (human) RGD PMID:19565552 RGD:5147611 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272 		JBrowse link
G LOC100982859 class I histocompatibility antigen, Gogo-B*0101 alpha chain susceptibility
no_association		 ISO DNA:polymorphisms:cds:HLA-B27, HLA-B60 (human, Caucasian)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:HLA-B2705 (human)		 RGD
CTD		 PMID:8053961 PMID:8733445 PMID:21743469 PMID:21927904 PMID:22138694 RGD:10755579 RGD:7364914 NCBI chr 6:31,106,562...31,109,933
Ensembl chr 6:31,997,381...32,000,067 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:677C>T (human) RGD PMID:25060515 RGD:42722610 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419 		JBrowse link
G PGF placental growth factor ISO RGD PMID:21873332 RGD:6483576 NCBI chr14:55,494,152...55,508,066
Ensembl chr14:74,338,976...74,352,964 		JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO DNA: snp: rs17587 RGD PMID:22034108 RGD:6483349 NCBI chr 6:32,423,614...32,429,062
Ensembl chr 6:33,539,060...33,564,402 		JBrowse link
G PTGER4 prostaglandin E receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:21743469 RGD:6483530 NCBI chr 5:69,686,906...69,700,739
Ensembl chr 5:74,731,470...74,745,148 		JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 1:24,097,321...24,164,065
Ensembl chr 1:25,073,134...25,137,335 		JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr 6:32,414,665...32,423,488
Ensembl chr 6:33,530,171...33,538,978 		JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr 6:32,394,586...32,408,297
Ensembl chr 6:33,507,332...33,523,750 		JBrowse link
G TBKBP1 TBK1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr17:9,825,050...9,843,029 JBrowse link
G THBD thrombomodulin ISO protein:increased expression:serum RGD PMID:21556780 RGD:5684983 NCBI chr20:22,992,341...22,996,415
Ensembl chr20:23,345,917...23,347,812 		JBrowse link
G TLR4 toll like receptor 4 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711 		JBrowse link
G TLR5 toll like receptor 5 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr 1:198,787,046...198,819,537
Ensembl chr 1:203,798,767...203,801,343 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO RGD PMID:21317434 RGD:5131280 NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646 		JBrowse link
G VIP vasoactive intestinal peptide ISO protein:increased expression:plasma RGD PMID:20340024 RGD:5685387 NCBI chr 6:150,564,545...150,573,582
Ensembl chr 6:155,254,652...155,263,730 		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 chr2A:54,261,519...54,457,551
Ensembl chr2A:55,027,521...55,603,055 		JBrowse link
G IL1R1 interleukin 1 receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD Ensembl chr2A:103,193,131...103,230,005 JBrowse link
G MLKL mixed lineage kinase domain like pseudokinase ISO ClinVar Annotator: match by term: Chronic multifocal osteomyelitis ClinVar NCBI chr16:55,237,656...55,266,945
Ensembl chr16:74,591,635...74,620,667 		JBrowse link
G MYNN myoneurin ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr 3:166,786,529...166,802,362
Ensembl chr 3:174,840,394...174,856,661 		JBrowse link
G PSTPIP2 proline-serine-threonine phosphatase interacting protein 2 ISO OMIM:259680 MouseDO NCBI chr18:39,265,559...39,364,422
Ensembl chr18:42,804,773...42,892,493 		JBrowse link
G TERT telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar PMID:16890917 PMID:28492532 Ensembl chr 5:1,300,960...1,338,872 JBrowse link
G ZBTB46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar Ensembl chr20:61,667,319...61,713,895 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 chr2A:89,048,426...89,056,299
Ensembl chr2A:114,017,436...114,020,966 		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 chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839 		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 chr2A:89,059,526...89,065,695
Ensembl chr2A:114,004,209...114,009,865 		JBrowse link
G NFKBIA NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar NCBI chr14:16,155,331...16,158,588 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		 Ensembl chr2A:103,193,131...103,230,005 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 chr18:11,368,328...11,435,808
Ensembl chr18:13,678,772...13,743,346 		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 chr18:11,270,941...11,367,312
Ensembl chr18:13,608,883...13,675,165 		JBrowse link
G MYL12B myosin light chain 12B ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr18:10,999,849...11,016,059
Ensembl chr18:13,308,356...13,324,754 		JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr18:11,057,733...11,215,998
Ensembl chr18:13,368,052...13,523,834 		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 chr18:11,479,742...11,627,035
Ensembl chr18:13,785,912...13,933,887 		JBrowse link
G TGIF1 TGFB induced factor homeobox 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr18:10,819,015...10,830,282
Ensembl chr18:13,128,359...13,139,145 		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 chr 1:135,062,102...135,064,402 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 chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868 		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 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331 		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 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711 		JBrowse link
osteomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain susceptibility ISO associated with Anemia, Sickle Cell;DNA:polymorphisms, haplotypes:cds:HLA-DQB1*050101, HLA-DQB1*0201, HLA-DQB1*0302 (human) RGD PMID:18312480 RGD:11041747 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272 		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 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083 		JBrowse link
G DUSP1 dual specificity phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr 5:168,121,536...168,124,671
Ensembl chr 5:175,032,803...175,035,960 		JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G LRP5 LDL receptor related protein 5 susceptibility ISO DNA:polymorphism:cds:p.Q89R(human) RGD PMID:17202888 RGD:12792278 NCBI chr11:63,396,511...63,534,471
Ensembl chr11:66,735,246...66,839,817 		JBrowse link
G SKP2 S-phase kinase associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr 5:74,179,608...74,211,563
Ensembl chr 5:79,461,018...79,492,311 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381 		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 chr15:23,668,108...23,674,791
Ensembl chr15:41,836,345...41,842,991 		JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:serum (rat) RGD PMID:21905004 RGD:9068946 NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074 		JBrowse link
G LOC100982859 class I histocompatibility antigen, Gogo-B*0101 alpha chain susceptibility ISO DNA:polymorphism:cds:HLA-B*2714, B*2705 (human) RGD PMID:12889998 RGD:10755578 NCBI chr 6:31,106,562...31,109,933
Ensembl chr 6:31,997,381...32,000,067 		JBrowse link
G PSMB9 proteasome 20S subunit beta 9 no_association ISO RGD PMID:9496154 PMID:15603870 RGD:6483462 RGD:6483495 NCBI chr 6:32,423,614...32,429,062
Ensembl chr 6:33,539,060...33,564,402 		JBrowse link
G RUNX2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr 6:45,003,962...45,133,148
Ensembl chr 6:46,189,432...46,524,389 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15755
    disease of anatomical entity 15430
      musculoskeletal system disease 8012
        bone disease 3986
          Infectious Bone Diseases 61
            osteomyelitis + 22
            periostitis + 4
            skeletal tuberculosis + 0
            spondylitis + 42
Path 2
Term Annotations click to browse term
  disease 15755
    disease of anatomical entity 15430
      musculoskeletal system disease 8012
        connective tissue disease 5528
          bone disease 3986
            Infectious Bone Diseases 61
              osteomyelitis + 22
              periostitis + 4
              skeletal tuberculosis + 0
              spondylitis + 42
paths to the root