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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:fibrosarcoma
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Accession:DOID:3355 term browser browse the term
Definition:A connective tissue cancer that has_material_basis_in fibrous connective tissue and characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern. (DO)
Synonyms:exact_synonym: fibrocytic tumor;   fibrosarcoma of soft tissue;   fibrosarcomas
 primary_id: MESH:D005354
 xref: EFO:0002087;   GARD:2327;   NCI:C24017;   NCI:C3043;   NCI:C60403;   NCI:C6605;   NCI:C7075
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
fibrosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC42 cell division cycle 42 ISO RGD PMID:17971488 RGD:5688275 NCBI chr 1:21,245,970...21,286,210 JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 ameliorates ISO DNA:deletion:exons: RGD PMID:24293323 RGD:150429711 NCBI chr 1:138,048,730...138,200,426
Ensembl chr 1:141,932,158...141,990,766 		JBrowse link
G EGR1 early growth response 1 ISO human tumor line expressing mouse gene in mouse model RGD PMID:7585551 RGD:5131944 NCBI chr 5:133,845,305...133,849,291
Ensembl chr 5:139,975,635...139,979,260 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor susceptibility ISO RGD PMID:11238917 RGD:11567233 NCBI chr10:44,703,720...44,784,948 JBrowse link
G NF1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20601955 NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295 		JBrowse link
G SERPINE1 serpin family E member 1 severity ISO RGD PMID:11059781 RGD:8547752 NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450 		JBrowse link
G TERT telomerase reverse transcriptase treatment ISO RGD PMID:19903903 RGD:11038656 Ensembl chr 5:1,300,960...1,338,872 JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO human gene in mouse model RGD PMID:10753499 RGD:5131435 NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613 		JBrowse link
congenital fibrosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SUFU SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Congenital fibrosarcoma ClinVar NCBI chr10:99,107,516...99,231,761
Ensembl chr10:102,571,886...102,696,472 		JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Infantile fibrosarcoma ClinVar PMID:1631137 PMID:1978757 PMID:8062826 PMID:8099841 PMID:8425176 More... NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		JBrowse link
dermatofibrosarcoma protuberans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain ISO DNA:gene fusion:exon
associated with Severe combined immunodeficiency due to adenosine deaminase deficiency;DNA:gene fusion		 RGD PMID:12641779 PMID:22153773 RGD:2292195 RGD:5688300 NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677 		JBrowse link
G PDGFB platelet derived growth factor subunit B ISO ClinVar Annotator: match by term: Dermatofibrosarcoma protuberans OMIM
ClinVar		 PMID:28492532 NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883 		JBrowse link
neurofibrosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KDR kinase insert domain receptor ISO RGD PMID:10554031 RGD:8552377 NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109 		JBrowse link
G MXI1 MAX interactor 1, dimerization protein ISO ClinVar Annotator: match by term: Neurofibrosarcoma ClinVar PMID:10470286 NCBI chr10:106,799,511...106,878,697 JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16239399 NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:peripheral nerve RGD PMID:10554031 RGD:8552377 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of cellular proliferation 7240
      cancer 5233
        cell type cancer 3590
          sarcoma 271
            fibrosarcoma 16
              adult fibrosarcoma 0
              breast fibrosarcoma 0
              central nervous system fibrosarcoma 0
              childhood fibrosarcoma + 2
              conventional fibrosarcoma 0
              dermatofibrosarcoma protuberans 2
              heart fibrosarcoma 0
              kidney fibrosarcoma 0
              liver fibrosarcoma 0
              neurofibrosarcoma 4
              small bowel fibrosarcoma 0
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      Skin and Connective Tissue Diseases 6860
        connective tissue disease 5332
          Connective Tissue Neoplasms 1735
            Fibrous Tissue Neoplasms 59
              fibrosarcoma 16
                adult fibrosarcoma 0
                breast fibrosarcoma 0
                central nervous system fibrosarcoma 0
                childhood fibrosarcoma + 2
                conventional fibrosarcoma 0
                dermatofibrosarcoma protuberans 2
                heart fibrosarcoma 0
                kidney fibrosarcoma 0
                liver fibrosarcoma 0
                neurofibrosarcoma 4
                small bowel fibrosarcoma 0
paths to the root