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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:Tibial Fractures
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Accession:DOID:9001547 term browser browse the term
Definition:Fractures of the TIBIA.
Synonyms:exact_synonym: Segond Fracture;   Tibial Fracture;   Tillaux Fracture;   Toddler Fracture;   Toddler's Fracture;   Toddlers Fracture
 primary_id: MESH:D013978
 xref: EFO:0003944


show annotations for term's descendants           Sort by:
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
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:1677003 PMID:15666313 PMID:25741868 PMID:28492532 PMID:29100092 More... NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Wounds and Injuries 979
      Bone Fractures 89
        Tibial Fractures 16
          spondylometaphyseal dysplasia corner fracture type 3
Path 2
Term Annotations click to browse term
  disease 21128
    Wounds and Injuries 979
      limb injury 43
        Leg Injuries 43
          Tibial Fractures 16
            spondylometaphyseal dysplasia corner fracture type 3
paths to the root