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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:Leg Injuries
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Accession:DOID:9008911 term browser browse the term
Definition:General or unspecified injuries involving the leg.
Synonyms:exact_synonym: Leg Injury
 primary_id: MESH:D007869;   RDO:0005588
For additional species annotation, visit the Alliance of Genome Resources.

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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 3:32,947,901...33,034,598
Ensembl chr 3:32,947,378...33,034,282 		JBrowse link
G Bmp4 bone morphogenetic protein 4 treatment IEP
IDA
ISO		 mRNA:increased expression:upper leg RGD PMID:10701160, PMID:15352071, PMID:12810166 RGD:2289025, RGD:9068399, RGD:8699510 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740 		JBrowse link
G Bmp7 bone morphogenetic protein 7 IEP
ISO		 CTD Direct Evidence: therapeutic CTD PMID:16234978, PMID:9626398 RGD:2289041 NCBI chr 3:170,879,972...170,955,820
Ensembl chr 3:170,879,973...170,955,399 		JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 IEP RGD PMID:9626398 RGD:2289041 NCBI chr 9:66,568,074...66,683,019
Ensembl chr 9:66,568,074...66,676,494 		JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment IDA RGD PMID:12412812 RGD:8552709 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789 		JBrowse link
G Csf2 colony stimulating factor 2 IEP protein:increased expression:serum RGD PMID:21442011 RGD:5131471 NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070 		JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 IEP protein:increased expression:lung, serum RGD PMID:21442011 RGD:5131471 NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457 		JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 treatment IEP RGD PMID:25181476 RGD:11352664 NCBI chr 4:149,261,044...149,273,891
Ensembl chr 4:149,261,044...149,273,891 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 IMP RGD PMID:25181476 RGD:11352664 NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878 		JBrowse link
G Dkk1 dickkopf WNT signaling pathway inhibitor 1 IMP RGD PMID:21773994 RGD:6907379 NCBI chr 1:248,952,896...248,956,579
Ensembl chr 1:248,895,738...248,898,607
Ensembl chr 1:248,895,738...248,898,607 		JBrowse link
G Fgf2 fibroblast growth factor 2 IEP RGD PMID:11704499 RGD:11567258 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 IEP RGD PMID:11704499 RGD:11567258 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449 		JBrowse link
G Gdf5 growth differentiation factor 5 treatment ISO RGD PMID:25543012 RGD:12738204 NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693 		JBrowse link
G Il10 interleukin 10 IEP protein:increased expression:serum RGD PMID:21442011 RGD:5131471 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392 		JBrowse link
G Il1a interleukin 1 alpha IEP protein:increased expression:lung, serum RGD PMID:21442011 RGD:5131471 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086 		JBrowse link
G Il2 interleukin 2 IEP protein:increased expression:serum RGD PMID:21442011 RGD:5131471 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854 		JBrowse link
G Il6 interleukin 6 IEP protein:increased expression:serum RGD PMID:21442011 RGD:5131471 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807 		JBrowse link
G Lef1 lymphoid enhancer binding factor 1 IEP mRNA:decreased expression:bone RGD PMID:16459154 RGD:2298720 NCBI chr 2:236,232,115...236,345,061
Ensembl chr 2:236,233,239...236,345,056 		JBrowse link
G Lep leptin IEP RGD PMID:21276361 RGD:5128517 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818 		JBrowse link
G Msx1 msh homeobox 1 IEP mRNA, protein:increased expression:bone, osteoblast, chondrocyte RGD PMID:16451220 RGD:5132608 NCBI chr14:77,712,262...77,716,061
Ensembl chr14:77,712,240...77,716,059 		JBrowse link
G Msx2 msh homeobox 2 IEP mRNA, protein:increased expression:bone, osteoblast, chondrocyte RGD PMID:16451220 RGD:5132608 NCBI chr17:11,683,862...11,689,527
Ensembl chr17:11,683,862...11,689,527 		JBrowse link
G Nf1 neurofibromin 1 ISO mRNA,protein:increased expression:cartilage" RGD PMID:8820972 RGD:12789703 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903 		JBrowse link
G Postn periostin IEP mRNA,protein:increased expression:bone: RGD PMID:19006175 RGD:10040956 NCBI chr 2:143,656,820...143,688,087
Ensembl chr 2:143,656,793...143,688,087 		JBrowse link
G S100b S100 calcium binding protein B IEP protein:increased expression:blood RGD PMID:14504167 RGD:5509053 NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856 		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 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807 		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 chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410 		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 dislocations ClinVar PMID:25741868 NCBI chr15:18,750,152...18,883,019
Ensembl chr15:18,750,118...18,883,005 		JBrowse link
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type ClinVar PMID:7695699 PMID:8218237 PMID:10612821 PMID:17163530 PMID:19344236 PMID:26443184 PMID:26626311 PMID:27888646 PMID:28492532 PMID:32200603 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997 		JBrowse link
G Fn1 fibronectin 1 ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type ClinVar
OMIM		 PMID:1677003 PMID:15666313 PMID:25741868 PMID:29100092 PMID:32200603 NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078 		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 3:126,335,963...126,346,771
Ensembl chr 3:126,335,863...126,346,318 		JBrowse link
G Bmp3 bone morphogenetic protein 3 IEP protein:increased expression:tibia RGD PMID:16651391 RGD:2289037 NCBI chr14:12,362,912...12,387,572
Ensembl chr14:12,359,363...12,387,102 		JBrowse link
G Bmp4 bone morphogenetic protein 4 IEP protein:increased expression:tibia RGD PMID:16651391 RGD:2289037 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740 		JBrowse link
G Bmp6 bone morphogenetic protein 6 IEP RGD PMID:23097200 RGD:7242189 NCBI chr17:26,955,142...27,112,820
Ensembl chr17:26,955,142...27,112,820 		JBrowse link
G Bmp7 bone morphogenetic protein 7 IEP protein:increased expression:tibia RGD PMID:16651391 RGD:2289037 NCBI chr 3:170,879,972...170,955,820
Ensembl chr 3:170,879,973...170,955,399 		JBrowse link
G Casp1 caspase 1 IEP RGD PMID:19853379 RGD:2315887 NCBI chr 8:2,605,743...2,614,637
Ensembl chr 8:2,604,962...2,614,631 		JBrowse link
G Il18 interleukin 18 IEP protein:increased expression:skin RGD PMID:19853379 RGD:2315887 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299 		JBrowse link
G Pdgfb platelet derived growth factor subunit B treatment ISO associated with Osteoporosis; RGD PMID:17676626 RGD:10449446 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741 		JBrowse link
G Pgf placental growth factor ISO RGD PMID:16614757 RGD:6483602 NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598 		JBrowse link
G Pth parathyroid hormone ISO human protein in rat model RGD PMID:23585311 RGD:7242790 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761 		JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A IEP associated with Diabetes Mellitus, Experimental RGD PMID:18592139 RGD:2302324 NCBI chr13:25,778,306...25,835,802
Ensembl chr13:25,778,317...25,835,957 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B IEP associated with Diabetes Mellitus, Experimental RGD PMID:18592139 RGD:2302324 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665 		JBrowse link
G Tnfsf11 TNF superfamily member 11 IEP associated with Diabetes Mellitus, Experimental RGD PMID:18592139 RGD:2302324 NCBI chr15:60,482,527...60,512,704
Ensembl chr15:60,482,527...60,512,704 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Wounds and Injuries 860
      Leg Injuries 39
        Ankle Injuries 0
        Femoral Fractures + 25
        Foot Injuries + 1
        Knee Injuries + 1
        Medial Tibial Stress Syndrome 0
        Tibial Fractures + 15
        Tibial Meniscus Injuries 0
paths to the root