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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;   Chondrosarcomas;   chondrosarcoma of bone;   primary chondrosarcoma of the bone
 narrow_synonym: chondrosarcoma, somatic;   chondrosarcoma, sporadic
 primary_id: MESH:D002813
 alt_id: OMIM:215300
 xref: EFO:0000333;   GARD:6004;   GARD:6055;   NCI:C24018;   NCI:C2946;   NCI:C60376;   NCI:C7155
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 9:113,885,541...113,895,033
Ensembl chr 9:113,885,542...113,895,131 		JBrowse link
G COL2A1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)		 CTD
RGD		 PMID:23770606 RGD:8657387 NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,137...78,380,718 		JBrowse link
G EXT1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Chondrosarcoma | ClinVar Annotator: match by term: Chondrosarcoma, somatic OMIM
ClinVar		 PMID:8981950 PMID:9521425 PMID:10679937 PMID:11170095 PMID:11391482 More... NCBI chr 4:20,645,002...20,935,769
Ensembl chr 4:20,645,610...20,935,540 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO protein:increased expression:growth plate RGD PMID:17907424 RGD:11568634 NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964 		JBrowse link
G MTOR mechanistic target of rapamycin kinase disease_progression ISO RGD PMID:22761648 RGD:10040952 NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888 		JBrowse link
G TAF15 TATA-box binding protein associated factor 15 ISO extraskeletal myxoid chondrosarcomas (EMC) RGD PMID:10602519 RGD:1599281 NCBI chr12:39,687,171...39,716,761
Ensembl chr12:39,686,884...39,724,769 		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 OMIM NCBI chr 1:241,569,867...241,611,735
Ensembl chr 1:241,570,010...241,611,727 		JBrowse link
G TAF15 TATA-box binding protein associated factor 15 ISO ClinVar Annotator: match by term: TAF15-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr12:39,687,171...39,716,761
Ensembl chr12:39,686,884...39,724,769 		JBrowse link
mesenchymal chondrosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCL2 BCL2 apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12817616 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879 		JBrowse link
G CD99 CD99 molecule (Xg blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:12817616 NCBI chr  Y:5,946,851...5,983,610 JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:12817616 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119 		JBrowse link
G MKI67 marker of proliferation Ki-67 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12817616 NCBI chr14:137,266,622...137,296,312 JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:12817616 NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,441 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    disease of cellular proliferation 7152
      Neoplasms by Histologic Type 4983
        cell type cancer 3568
          sarcoma 268
            bone sarcoma 77
              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 17412
    disease of anatomical entity 14873
      musculoskeletal system disease 7668
        connective tissue disease 5225
          Connective Tissue Neoplasms 1700
            connective tissue cancer 752
              bone cancer 703
                bone sarcoma 77
                  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