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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: GARD:2327;   NCI:C24017;   NCI:C3043;   NCI:C60403;   NCI:C6605;   NCI:C7075
For additional species annotation, visit the Alliance of Genome Resources.

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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 5:155,690,267...155,728,385
Ensembl chr 5:155,691,390...155,728,300 		JBrowse link
G Egr1 early growth response 1 ISO human tumor line expressing mouse gene in mouse model RGD PMID:7585551 RGD:5131944 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor susceptibility ISO RGD PMID:11238917 RGD:11567233 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610 		JBrowse link
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20601955 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903 		JBrowse link
G Serpine1 serpin family E member 1 severity ISO RGD PMID:11059781 RGD:8547752 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482 		JBrowse link
G Tert telomerase reverse transcriptase treatment ISO RGD PMID:19903903 RGD:11038656 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO human gene in mouse model RGD PMID:10753499 RGD:5131435 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633 		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 chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO DNA:gene fusion:exon
ClinVar Annotator: match by term: Dermatofibrosarcoma protuberans		 ClinVar
OMIM		 PMID:28492532, PMID:12641779 RGD:2292195 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741 		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 chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183 		JBrowse link
G Mxi1 MAX interactor 1, dimerization protein ISO ClinVar Annotator: match by null ClinVar PMID:10470286, PMID:10470286 RGD:1600205 NCBI chr 1:274,030,748...274,090,071
Ensembl chr 1:274,030,978...274,090,071 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16239399 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:peripheral nerve RGD PMID:10554031 RGD:8552377 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    disease of cellular proliferation 6944
      cancer 4896
        cell type cancer 3391
          sarcoma 243
            fibrosarcoma 13
              adult fibrosarcoma 0
              breast fibrosarcoma 0
              central nervous system fibrosarcoma 0
              childhood fibrosarcoma + 0
              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 17129
    disease of anatomical entity 16476
      Skin and Connective Tissue Diseases 5810
        connective tissue disease 4420
          Connective Tissue Neoplasms 1617
            Fibrous Tissue Neoplasms 47
              fibrosarcoma 13
                adult fibrosarcoma 0
                breast fibrosarcoma 0
                central nervous system fibrosarcoma 0
                childhood fibrosarcoma + 0
                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