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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:limb injury
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Accession:DOID:9004073 term browser browse the term
Definition:This is an injury to an arm, leg, wing, or otherwise modified appendage.
Synonyms:exact_synonym: limb injuries
 xref: EFO:0009509


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Anterior Cruciate Ligament Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnr2 cannabinoid receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34537380 NCBI chr 5:148,125,222...148,151,548
Ensembl chr 5:148,125,604...148,151,548 		JBrowse link
Femoral Fractures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr2a activin A receptor type 2A IEP RGD PMID:9076583 RGD:2325239 NCBI chr 3:33,204,961...33,292,673
Ensembl chr 3:33,205,523...33,289,968 		JBrowse link
G Bmp4 bone morphogenetic protein 4 treatment IEP
ISO
IDA		 mRNA:increased expression:upper leg RGD PMID:10701160 PMID:12810166 PMID:15352071 RGD:2289025, RGD:8699510, RGD:9068399 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Bmp7 bone morphogenetic protein 7 IEP
ISO		 CTD Direct Evidence: therapeutic CTD
RGD		 PMID:16234978 PMID:9626398 RGD:2289041 NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788 		JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 IEP RGD PMID:9626398 RGD:2289041 NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809 		JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment IDA RGD PMID:12412812 RGD:8552709 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Csf2 colony stimulating factor 2 IEP protein:increased expression:serum RGD PMID:21442011 RGD:5131471 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199 		JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 IEP protein:increased expression:lung, serum RGD PMID:21442011 RGD:5131471 NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215 		JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 treatment IEP RGD PMID:25181476 RGD:11352664 NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 IMP RGD PMID:25181476 RGD:11352664 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
G Dkk1 dickkopf WNT signaling pathway inhibitor 1 IMP RGD PMID:21773994 RGD:6907379 NCBI chr 1:228,381,521...228,385,202
Ensembl chr 1:228,381,521...228,385,202 		JBrowse link
G Fgf2 fibroblast growth factor 2 IEP RGD PMID:11704499 RGD:11567258 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 IEP RGD PMID:11704499 RGD:11567258 NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Gdf5 growth differentiation factor 5 treatment ISO RGD PMID:25543012 RGD:12738204 NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612 		JBrowse link
G Il10 interleukin 10 IEP protein:increased expression:serum RGD PMID:21442011 RGD:5131471 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il1a interleukin 1 alpha IEP protein:increased expression:lung, serum RGD PMID:21442011 RGD:5131471 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il2 interleukin 2 IEP protein:increased expression:serum RGD PMID:21442011 RGD:5131471 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il6 interleukin 6 IEP protein:increased expression:serum RGD PMID:21442011 RGD:5131471 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Lef1 lymphoid enhancer binding factor 1 IEP mRNA:decreased expression:bone RGD PMID:16459154 RGD:2298720 NCBI chr 2:219,666,549...219,779,815
Ensembl chr 2:219,666,592...219,779,794 		JBrowse link
G Lep leptin IEP RGD PMID:21276361 RGD:5128517 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Mir222 microRNA 222 ameliorates
disease_progression		 IMP
IEP		 RGD PMID:27545451 PMID:31691506 RGD:151893485, RGD:151893486 NCBI chr  X:3,428,904...3,429,006
Ensembl chr  X:3,428,904...3,429,006 		JBrowse link
G Msx1 msh homeobox 1 IEP mRNA, protein:increased expression:bone, osteoblast, chondrocyte RGD PMID:16451220 RGD:5132608 NCBI chr14:72,961,036...72,964,970
Ensembl chr14:72,961,148...72,964,966 		JBrowse link
G Msx2 msh homeobox 2 IEP mRNA, protein:increased expression:bone, osteoblast, chondrocyte RGD PMID:16451220 RGD:5132608 NCBI chr17:11,097,214...11,102,879
Ensembl chr17:11,097,103...11,102,879 		JBrowse link
G Nf1 neurofibromin 1 ISO mRNA,protein:increased expression:cartilage" RGD PMID:8820972 RGD:12789703 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Postn periostin IEP mRNA,protein:increased expression:bone: RGD PMID:19006175 RGD:10040956 NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099 		JBrowse link
G S100b S100 calcium binding protein B IEP protein:increased expression:blood RGD PMID:14504167 RGD:5509053 NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743 		JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 disease_progression IEP RGD PMID:31691506 RGD:151893486 NCBI chr 7:17,520,827...17,571,850
Ensembl chr 7:17,521,919...17,571,839 		JBrowse link
Foot Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6 interleukin 6 IEP protein:increased expression:serum: RGD PMID:18988309 RGD:8662979 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
Hip Fractures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb3 integrin subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17264806 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679 		JBrowse link
Knee Dislocation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin B ISO ClinVar Annotator: match by term: Knee dislocation ClinVar PMID:25741868 PMID:28492532 PMID:31836586 NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006 		JBrowse link
spondylometaphyseal dysplasia corner fracture type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO ClinVar Annotator: match by term: FN1-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type ClinVar PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More... NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Fn1 fibronectin 1 ISO ClinVar Annotator: match by term: FN1-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type OMIM
ClinVar		 PMID:1544672 PMID:1677003 PMID:7747733 PMID:12042895 PMID:15666313 More... NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678 		JBrowse link
Tibial Fractures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp2 bone morphogenetic protein 2 IEP protein:increased expression:tibia RGD PMID:16651391 RGD:2289037 NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397 		JBrowse link
G Bmp3 bone morphogenetic protein 3 IEP protein:increased expression:tibia RGD PMID:16651391 RGD:2289037 NCBI chr14:10,712,489...10,737,153
Ensembl chr14:10,712,489...10,737,153 		JBrowse link
G Bmp4 bone morphogenetic protein 4 IEP protein:increased expression:tibia RGD PMID:16651391 RGD:2289037 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Bmp6 bone morphogenetic protein 6 IEP RGD PMID:23097200 RGD:7242189 NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365 		JBrowse link
G Bmp7 bone morphogenetic protein 7 IEP protein:increased expression:tibia RGD PMID:16651391 RGD:2289037 NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788 		JBrowse link
G Casp1 caspase 1 IEP RGD PMID:19853379 RGD:2315887 NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383 		JBrowse link
G Il18 interleukin 18 IEP protein:increased expression:skin RGD PMID:19853379 RGD:2315887 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Pdgfb platelet derived growth factor subunit B treatment ISO associated with Osteoporosis; RGD PMID:17676626 RGD:10449446 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984 		JBrowse link
G Pgf placental growth factor ISO RGD PMID:16614757 RGD:6483602 NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685 		JBrowse link
G Pth parathyroid hormone ISO human protein in rat model RGD PMID:23585311 RGD:7242790 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530 		JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A IEP associated with Diabetes Mellitus, Experimental RGD PMID:18592139 RGD:2302324 NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B IEP associated with Diabetes Mellitus, Experimental RGD PMID:18592139 RGD:2302324 NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538 		JBrowse link
G Tnfsf11 TNF superfamily member 11 IEP associated with Diabetes Mellitus, Experimental RGD PMID:18592139 RGD:2302324 NCBI chr15:53,673,850...53,705,325
Ensembl chr15:53,673,877...53,705,445 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    Wounds and Injuries 995
      limb injury 43
        Arm Injuries + 0
        Leg Injuries + 43
paths to the root