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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:chondrosarcoma
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Accession:DOID:3371 term browser browse the term
Definition:A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage. (DO)
Synonyms:exact_synonym: cartilaginous cancer;   chondrosarcoma of bone;   chondrosarcomas;   primary chondrosarcoma of the bone
 narrow_synonym: chondrosarcoma, somatic;   chondrosarcoma, sporadic
 xref: EFO:0000333;   GARD:6004;   GARD:6055;   ICDO:9220/3;   MESH:D002813;   MIM:215300;   MONDO:0008977;   NCI:C24018;   NCI:C2946;   NCI:C60376;   NCI:C7155
For additional species annotation, visit the Alliance of Genome Resources.


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chondrosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chi3l1 chitinase 3 like 1 ISO mRNA:increased expression:tumor (human) RGD PMID:12598313 RGD:4892624 NCBI chr 1:134,109,894...134,117,769
Ensembl chr 1:134,109,914...134,117,919 		JBrowse link
G Col2a1 collagen, type II, alpha 1 ISO DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:23770606 PMID:23770606 RGD:8657387 NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576 		JBrowse link
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Chondrosarcoma | ClinVar Annotator: match by term: Chondrosarcoma, somatic
CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:epiphyseal plate (human)		 OMIM
ClinVar
CTD
RGD		 PMID:7550340 PMID:8981950 PMID:9521425 PMID:10679937 PMID:10713884 More... RGD:13208235 NCBI chr15:52,931,657...53,209,579
Ensembl chr15:52,927,434...53,209,555 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO protein:increased expression:growth plate RGD PMID:17907424 RGD:11568634 NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
G Mtor mechanistic target of rapamycin kinase disease_progression ISO RGD PMID:22761648 RGD:10040952 NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140 		JBrowse link
G Taf15 TATA-box binding protein associated factor 15 ISO extraskeletal myxoid chondrosarcomas (EMC) RGD PMID:10602519 RGD:1599281 NCBI chr11:83,363,897...83,397,569
Ensembl chr11:83,363,912...83,397,569 		JBrowse link
extraskeletal myxoid chondrosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr4a3 nuclear receptor subfamily 4, group A, member 3 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 4:48,045,098...48,086,446
Ensembl chr 4:48,045,153...48,086,447 		JBrowse link
G Taf15 TATA-box binding protein associated factor 15 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: TAF15-related condition		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr11:83,363,897...83,397,569
Ensembl chr11:83,363,912...83,397,569 		JBrowse link
mesenchymal chondrosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2 B cell leukemia/lymphoma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12817616 NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004 		JBrowse link
G Cd99 CD99 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:12817616
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:12817616 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892 		JBrowse link
G Mki67 antigen identified by monoclonal antibody Ki 67 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12817616 NCBI chr 7:135,291,513...135,318,286
Ensembl chr 7:135,291,513...135,318,090 		JBrowse link
G Pdgfra platelet derived growth factor receptor, alpha polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:12817616 NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16234
    disease of cellular proliferation 7740
      Neoplasms by Histologic Type 5369
        cell type cancer 3843
          sarcoma 282
            bone sarcoma 85
              chondrosarcoma 12
                bone chondrosarcoma 0
                clear cell chondrosarcoma 0
                dedifferentiated chondrosarcoma 0
                extraskeletal myxoid chondrosarcoma + 2
                juxtacortical chondrosarcoma 0
                localized chondrosarcoma 0
                mesenchymal chondrosarcoma + 5
                myxoid chondrosarcoma + 0
                periosteal chondrosarcoma 0
Path 2
Term Annotations click to browse term
  disease 16234
    disease of anatomical entity 15851
      musculoskeletal system disease 8153
        connective tissue disease 5596
          Connective Tissue Neoplasms 1819
            connective tissue cancer 819
              bone cancer 766
                bone sarcoma 85
                  chondrosarcoma 12
                    bone chondrosarcoma 0
                    clear cell chondrosarcoma 0
                    dedifferentiated chondrosarcoma 0
                    extraskeletal myxoid chondrosarcoma + 2
                    juxtacortical chondrosarcoma 0
                    localized chondrosarcoma 0
                    mesenchymal chondrosarcoma + 5
                    myxoid chondrosarcoma + 0
                    periosteal chondrosarcoma 0
paths to the root