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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 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111
JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 ameliorates ISO DNA:deletion:exons: RGD PMID:24293323 RGD:150429711 NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
JBrowse link
G Egr1 early growth response 1 ISO human tumor line expressing mouse gene in mouse model RGD PMID:7585551 RGD:5131944 NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor susceptibility ISO RGD PMID:11238917 RGD:11567233 NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
JBrowse link
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20601955 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
JBrowse link
G Serpine1 serpin family E member 1 severity ISO RGD PMID:11059781 RGD:8547752 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Tert telomerase reverse transcriptase treatment ISO RGD PMID:19903903 RGD:11038656 NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO human gene in mouse model RGD PMID:10753499 RGD:5131435 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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 chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO DNA:gene fusion:exon
ClinVar Annotator: match by term: Dermatofibrosarcoma protuberans
ClinVar
OMIM
RGD
PMID:28492532 PMID:12641779 RGD:2292195 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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 chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
JBrowse link
G Mxi1 MAX interactor 1, dimerization protein ISO ClinVar Annotator: match by term: Neurofibrosarcoma ClinVar
RGD
PMID:10470286 PMID:10470286 RGD:1600205 NCBI chr 1:252,323,915...252,383,682
Ensembl chr 1:252,323,303...252,383,681
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16239399 NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:peripheral nerve RGD PMID:10554031 RGD:8552377 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    disease of cellular proliferation 7257
      cancer 5223
        cell type cancer 3544
          sarcoma 254
            fibrosarcoma 14
              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 18030
    disease of anatomical entity 17410
      Skin and Connective Tissue Diseases 6546
        connective tissue disease 4899
          Connective Tissue Neoplasms 1668
            Fibrous Tissue Neoplasms 48
              fibrosarcoma 14
                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