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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:osteosarcoma
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Accession:DOID:3347 term browser browse the term
Definition:A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). (DO)
Synonyms:exact_synonym: OSRC;   OSTEOBLASTIC OSTEOSARCOMA;   osteogenic sarcoma;   osteogenic sarcomas;   osteoid sarcoma;   osteosarcoma tumor;   osteosarcoma tumors;   osteosarcomas;   skeletal sarcoma
 narrow_synonym: osteosarcoma, somatic
 primary_id: MESH:D012516
 alt_id: MIM:259500
 xref: EFO:0000637;   GARD:7284;   ICDO:9180/3;   NCI:C120045;   NCI:C24021;   NCI:C60487;   NCI:C9145;   ORDO:668
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
osteosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap12 A-kinase anchoring protein 12 ISO mRNA,protein:decreased expression:osteoblast: RGD PMID:19825367 RGD:5147850 NCBI chrNW_004624785:6,900,252...6,987,712
Ensembl chrNW_004624785:6,897,561...6,988,287 		JBrowse link
G Bcor BCL6 corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22387997 NCBI chrNW_004624762:15,338,331...15,465,683
Ensembl chrNW_004624762:15,420,596...15,465,873 		JBrowse link
G Bmi1 BMI1 proto-oncogene, polycomb ring finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:21311599 NCBI chrNW_004624796:6,277,201...6,282,830
Ensembl chrNW_004624796:6,274,561...6,282,984 		JBrowse link
G Brca2 BRCA2 DNA repair associated ISO DNA:nonsense mutation RGD PMID:16964288 RGD:1599505 NCBI chrNW_004624776:5,497,552...5,573,465
Ensembl chrNW_004624776:5,497,779...5,550,993 		JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24646477 NCBI chrNW_004624901:2,348,218...2,434,429
Ensembl chrNW_004624901:2,346,734...2,380,852 		JBrowse link
G Cbl Cbl proto-oncogene ISO protein:decreased expression:bone RGD PMID:22623369 RGD:126925238 NCBI chrNW_004624784:14,577,582...14,671,816
Ensembl chrNW_004624784:14,577,515...14,667,575 		JBrowse link
G Ccnb3 cyclin B3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22387997 NCBI chrNW_004624893:1,775,726...1,861,925
Ensembl chrNW_004624893:1,788,915...1,862,015 		JBrowse link
G Cdc5l cell division cycle 5 like ISO DNA:amplification:cds (human) RGD PMID:18567798 RGD:10047050 NCBI chrNW_004624754:15,477,188...15,517,656
Ensembl chrNW_004624754:15,477,193...15,517,636 		JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Osteosarcoma, somatic OMIM
ClinVar		 PMID:3313277 PMID:9536098 PMID:10617473 PMID:11053450 PMID:11298456 More... NCBI chrNW_004624747:5,035,045...5,072,555
Ensembl chrNW_004624747:5,035,200...5,070,332 		JBrowse link
G Cited2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO DNA:deletion (rat) RGD PMID:19825367 RGD:5147850 NCBI chrNW_004624753:14,630,842...14,633,245
Ensembl chrNW_004624753:14,630,827...14,632,536 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ameliorates ISO human cells in mouse model RGD PMID:31571016 RGD:152025557 NCBI chrNW_004624732:35,473,740...35,477,482
Ensembl chrNW_004624732:35,472,760...35,477,528 		JBrowse link
G Ddr1 discoidin domain receptor tyrosine kinase 1 severity ISO human cells in mouse model
protein:increased expression:bone (human)		 RGD PMID:29039472 RGD:151347601 NCBI chrNW_004624754:24,881,439...24,905,633
Ensembl chrNW_004624754:24,880,496...24,896,995 		JBrowse link
G Dhfr dihydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19159907 NCBI chrNW_004624743:1,446,643...1,462,319
Ensembl chrNW_004624743:1,446,643...1,461,863 		JBrowse link
G E2f1 E2F transcription factor 1 severity ISO human cells in mouse model
protein:increased expression:bone (human)		 RGD PMID:29039472 RGD:151347601 NCBI chrNW_004624842:5,602,432...5,612,951
Ensembl chrNW_004624842:5,602,432...5,612,951 		JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 exacerbates ISO human EFEMP2 knockdown cell line in a mouse model RGD PMID:28339091 RGD:42722011 NCBI chrNW_004624767:20,559,801...20,566,326
Ensembl chrNW_004624767:20,559,795...20,566,341 		JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22235915 NCBI chrNW_004624740:584,133...713,205
Ensembl chrNW_004624740:589,606...713,271 		JBrowse link
G Egr1 early growth response 1 ISO mRNA:decreased expression:tumor (human) RGD PMID:21283769 RGD:5131662 NCBI chrNW_004624743:31,247,855...31,251,675
Ensembl chrNW_004624743:31,247,516...31,252,205 		JBrowse link
G Eif2s1 eukaryotic translation initiation factor 2 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chrNW_004624734:33,624,246...33,640,667
Ensembl chrNW_004624734:33,621,782...33,640,549 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit severity ISO DNA:silent mutation:cds:p.N118N (human) RGD PMID:23098477 RGD:13207418 NCBI chrNW_004624907:2,288,380...2,298,909
Ensembl chrNW_004624907:2,288,423...2,298,373 		JBrowse link
G Esrra estrogen related receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:24967384 PMID:34524571 NCBI chrNW_004624767:21,999,932...22,007,582
Ensembl chrNW_004624767:21,999,932...22,009,485 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:14767549 PMID:26265454 RGD:11532507 NCBI chrNW_004624800:6,781,848...6,874,221
Ensembl chrNW_004624800:6,802,901...6,874,196 		JBrowse link
G Folr1 folate receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17473184 NCBI chrNW_004624817:4,830,164...4,850,565
Ensembl chrNW_004624817:4,820,163...4,851,339 		JBrowse link
G Grm4 glutamate metabotropic receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23727862 NCBI chrNW_004624754:22,931,964...23,000,003
Ensembl chrNW_004624754:22,932,967...22,999,735 		JBrowse link
G Gstm3 glutathione S-transferase mu 3 ISO RGD PMID:20577141 RGD:5135042 NCBI chrNW_004624772:5,495,452...5,498,714
Ensembl chrNW_004624772:5,495,452...5,498,652 		JBrowse link
G Hdac6 histone deacetylase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34524571 NCBI chrNW_004624893:608,744...627,600
Ensembl chrNW_004624893:608,540...628,580 		JBrowse link
G Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 treatment ISO RGD PMID:19449377 RGD:13792789 NCBI chrNW_004624909:681,731...684,130
Ensembl chrNW_004624909:681,731...684,237 		JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645001 NCBI chrNW_004624862:1,537,886...1,540,633
Ensembl chrNW_004624862:1,538,455...1,539,426 		JBrowse link
G Kcnh1 potassium voltage-gated channel subfamily H member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248279 NCBI chrNW_004624807:1,019,347...1,392,433
Ensembl chrNW_004624807:1,056,313...1,388,491 		JBrowse link
G Lox lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23886186 NCBI chrNW_004624774:20,116,625...20,137,767
Ensembl chrNW_004624774:20,116,970...20,134,355 		JBrowse link
G Lzic leucine zipper and CTNNBIP1 domain containing ISO RGD PMID:19444910 RGD:2314410 NCBI chrNW_004624818:2,591,415...2,605,914
Ensembl chrNW_004624818:2,591,508...2,606,016 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22235915 NCBI chrNW_004624827:2,589,157...2,724,065
Ensembl chrNW_004624827:2,587,966...2,723,995 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25605016 NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255 		JBrowse link
G Msh2 mutS homolog 2 disease_progression ISO RGD PMID:25503122 RGD:126848779 NCBI chrNW_004624738:28,780,596...28,861,523
Ensembl chrNW_004624738:28,780,614...28,861,704 		JBrowse link
G Msh6 mutS homolog 6 disease_progression ISO RGD PMID:25503122 RGD:126848779 NCBI chrNW_004624738:29,083,696...29,108,792
Ensembl chrNW_004624738:29,083,692...29,108,792 		JBrowse link
G Mst1r macrophage stimulating 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22235915 NCBI chrNW_004624730:3,802,452...3,818,593
Ensembl chrNW_004624730:3,800,749...3,822,389 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase treatment ISO DNA:transition:cds:g.677C>T (human) RGD PMID:19159907 RGD:6893634 NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24646477 PMID:34508303 NCBI chrNW_004624735:27,780,338...27,784,714
Ensembl chrNW_004624735:27,780,037...27,784,806 		JBrowse link
G Nr1i2 nuclear receptor subfamily 1 group I member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17279585 NCBI chrNW_004624731:28,371,707...28,405,327
Ensembl chrNW_004624731:28,371,707...28,381,357 		JBrowse link
G Phlda2 pleckstrin homology like domain family A member 2 ISO CTD Direct Evidence: therapeutic CTD PMID:22021909 NCBI chrNW_004624767:15,678,897...15,680,656
Ensembl chrNW_004624767:15,679,481...15,679,876 		JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator severity ISO mRNA:increased expression:muscle tissue (human) RGD PMID:22390931 RGD:11535057 NCBI chrNW_004624747:8,914,226...8,927,648
Ensembl chrNW_004624747:8,913,531...8,918,222 		JBrowse link
G Prdx2 peroxiredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23911960 NCBI chrNW_004624901:407,240...410,902
Ensembl chrNW_004624901:406,257...410,866 		JBrowse link
G Ptbp1 polypyrimidine tract binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34508303 NCBI chrNW_004624828:7,750,419...7,762,645
Ensembl chrNW_004624828:7,750,323...7,762,589 		JBrowse link
G Pth parathyroid hormone ISO human protein in rat model RGD PMID:22688001 RGD:7242897 NCBI chrNW_004624766:5,489,857...5,492,777
Ensembl chrNW_004624766:5,489,800...5,492,871 		JBrowse link
G Ptprb protein tyrosine phosphatase receptor type B disease_progression ISO mRNA:decreased expression:bone (human) RGD PMID:31829261 RGD:151361289 NCBI chrNW_004624750:27,188,858...27,320,470
Ensembl chrNW_004624750:27,188,729...27,316,150 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO OMIM NCBI chrNW_004624748:6,358,588...6,533,217
Ensembl chrNW_004624748:6,358,180...6,533,249 		JBrowse link
G Rfc1 replication factor C subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19159907 NCBI chrNW_004624870:4,901,963...4,985,633
Ensembl chrNW_004624870:4,901,895...4,985,654 		JBrowse link
G Rgs1 regulator of G protein signaling 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chrNW_004624814:1,041,812...1,045,961
Ensembl chrNW_004624814:1,041,784...1,045,954 		JBrowse link
G Runx2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24646477 PMID:25307878 NCBI chrNW_004624754:14,601,574...14,868,469
Ensembl chrNW_004624754:14,679,974...14,867,729 		JBrowse link
G Serpinf1 serpin family F member 1 treatment ISO human protein in a mouse model
human gene in rat model		 RGD PMID:17458711 PMID:17479108 RGD:8633656 RGD:8655561 NCBI chrNW_004624786:4,487,005...4,497,706
Ensembl chrNW_004624786:4,486,978...4,497,585 		JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793039 NCBI chrNW_004624754:2,304,476...2,332,705
Ensembl chrNW_004624754:2,304,634...2,330,946 		JBrowse link
G Sox2 SRY-box transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34508303 NCBI chrNW_004624730:59,570,879...59,573,001
Ensembl chrNW_004624730:59,570,915...59,571,871 		JBrowse link
G Taf15 TATA-box binding protein associated factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chrNW_004624875:3,278,055...3,311,915 JBrowse link
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chrNW_004624736:37,209,709...37,221,921
Ensembl chrNW_004624736:37,210,291...37,221,747 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Osteosarcoma, somatic OMIM
ClinVar		 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 More... NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20158913 NCBI chrNW_004624754:15,929,414...15,943,637 JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28107196 NCBI chrNW_004624766:20,899,546...20,937,084
Ensembl chrNW_004624766:20,900,676...20,937,202 		JBrowse link
G Zmiz1 zinc finger MIZ-type containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34508303 NCBI chrNW_004624754:12,106,828...12,299,188
Ensembl chrNW_004624754:12,145,570...12,299,318 		JBrowse link
G Zw10 zw10 kinetochore protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chrNW_004624784:9,221,123...9,255,294
Ensembl chrNW_004624784:9,221,128...9,255,284 		JBrowse link
bone osteosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:3313277 PMID:9536098 PMID:10617473 PMID:11053450 PMID:11298456 More... NCBI chrNW_004624747:5,035,045...5,072,555
Ensembl chrNW_004624747:5,035,200...5,070,332 		JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 exacerbates
disease_progression		 ISO mRNA, protein:increased expression:bone tissue (human )
protein:increased expression:bone tissue (human)		 RGD PMID:27157136 PMID:28339091 RGD:42722011 RGD:42722013 NCBI chrNW_004624767:20,559,801...20,566,326
Ensembl chrNW_004624767:20,559,795...20,566,341 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:1352883 PMID:2594029 PMID:2601691 PMID:7881418 PMID:8651278 More... NCBI chrNW_004624748:6,358,588...6,533,217
Ensembl chrNW_004624748:6,358,180...6,533,249 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 More... NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:25741868 PMID:26822237 NCBI chrNW_004624913:166,931...203,008
Ensembl chrNW_004624913:166,931...202,953 		JBrowse link
localized osteosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccng1 cyclin G1 treatment ISO human cells in mouse model RGD PMID:9322869 RGD:151356969 NCBI chrNW_004624733:26,366,448...26,378,062
Ensembl chrNW_004624733:26,367,200...26,376,664 		JBrowse link
peripheral osteosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: High grade surface osteosarcoma ClinVar PMID:10678659 PMID:12734318 PMID:12838562 PMID:12952869 PMID:15897384 More... NCBI chrNW_004624735:12,345,326...12,351,783
Ensembl chrNW_004624735:12,345,844...12,351,637 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14230
    disease of cellular proliferation 6848
      cancer 5023
        cell type cancer 3323
          sarcoma 243
            bone sarcoma 72
              osteosarcoma 61
                Oslam syndrome 0
                Premature Aging, Okamoto Type 0
                Retinoblastoma-Related Osteosarcoma 0
                bone leiomyosarcoma 0
                bone osteosarcoma + 6
                breast osteosarcoma 0
                central nervous system osteosarcoma 0
                childhood osteosarcoma 0
                chondroblastic osteosarcoma 0
                extraosseous osteosarcoma + 0
                kidney osteogenic sarcoma 0
                liposarcoma of bone 0
                localized osteosarcoma 1
                malignant fibrous histiocytoma of bone 0
                metachronous osteosarcoma of the bone 0
Path 2
Term Annotations click to browse term
  disease 14230
    disease of anatomical entity 13932
      musculoskeletal system disease 7377
        connective tissue disease 5030
          bone disease 3676
            Bone Neoplasms 648
              bone cancer 632
                bone sarcoma 72
                  osteosarcoma 61
                    Oslam syndrome 0
                    Premature Aging, Okamoto Type 0
                    Retinoblastoma-Related Osteosarcoma 0
                    bone leiomyosarcoma 0
                    bone osteosarcoma + 6
                    breast osteosarcoma 0
                    central nervous system osteosarcoma 0
                    childhood osteosarcoma 0
                    chondroblastic osteosarcoma 0
                    extraosseous osteosarcoma + 0
                    kidney osteogenic sarcoma 0
                    liposarcoma of bone 0
                    localized osteosarcoma 1
                    malignant fibrous histiocytoma of bone 0
                    metachronous osteosarcoma of the bone 0
paths to the root