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dermatofibrosarcoma protuberans - Ontology Report - Rat Genome Database

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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:dermatofibrosarcoma protuberans
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Accession:DOID:3507 term browser browse the term
Definition:A fibrosarcoma that is located_in the dermis laryer of the skin and that begins as a hard nodule and grows slowly. (DO)
Synonyms:exact_synonym: Bednar Tumor;   Bednar's tumor;   Bednars Tumor;   DFSP;   Darier Ferrand Tumor;   Darier Hoffmann Tumor;   Dermatofibrosarcoma Protuberans, Giant Cell;   FS-DFSP;   Familial Dermatofibrosarcoma Protuberans;   Fibrosarcomatous DFSP;   Fibrosarcomatous Dermatofibrosarcoma Protuberans;   Giant Cell Fibroblastoma;   Giant Cell Fibroblastomas;   Giant Dermatofibrosarcoma Protuberans;   Juvenile DFSP;   Metastatic Dermatofibrosarcoma Protuberans;   Myxoid DFSP;   Myxoid Dermatofibrosarcoma Protuberans;   dermatofibrosarcoma;   dermatofibrosarcomas;   pigmented DFSP;   pigmented dermatofibrosarcoma protuberans
 xref: GARD:9569;   ICDO:8832/1;   MESH:D018223;   MIM:607907;   MONDO:0011934;   NCI:C4683
For additional species annotation, visit the Alliance of Genome Resources.

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show annotations for term's descendants           Sort by:
dermatofibrosarcoma protuberans term browser
Symbol Object Name 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 chr10:80,380,458...80,397,461
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
RGD		 PMID:25741868 PMID:28492532 PMID:12641779 RGD:2292195 NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:111,540,345...111,557,984 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    disease of cellular proliferation 7891
      cancer 5720
        cell type cancer 3783
          sarcoma 279
            fibrosarcoma 16
              dermatofibrosarcoma protuberans 2
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      Skin and Connective Tissue Diseases 7774
        connective tissue disease 5918
          Connective Tissue Neoplasms 1737
            Fibrous Tissue Neoplasms 62
              fibrosarcoma 16
                dermatofibrosarcoma protuberans 2
paths to the root