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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 Protuberan;   Dermatofibrosarcoma Protuberans, Giant Cell;   FS-DFSP;   Familial Dermatofibrosarcoma Protuberan;   Familial Dermatofibrosarcoma Protuberans;   Fibrosarcomatous DFSP;   Fibrosarcomatous Dermatofibrosarcoma Protuberan;   Fibrosarcomatous Dermatofibrosarcoma Protuberans;   Giant Cell Fibroblastoma;   Giant Cell Fibroblastomas;   Giant Dermatofibrosarcoma Protuberan;   Giant Dermatofibrosarcoma Protuberans;   Juvenile DFSP;   Metastatic Dermatofibrosarcoma Protuberan;   Metastatic Dermatofibrosarcoma Protuberans;   Myxoid DFSP;   Myxoid Dermatofibrosarcoma Protuberan;   Myxoid Dermatofibrosarcoma Protuberans;   Pigmented Dermatofibrosarcoma Protuberan;   Pigmented Dermatofibrosarcoma Protuberans;   dermatofibrosarcoma;   dermatofibrosarcomas;   pigmented DFSP
 primary_id: MESH:D018223
 alt_id: OMIM:607907
 xref: GARD:9569;   NCI:C4683
For additional species annotation, visit the Alliance of Genome Resources.



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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 chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO ClinVar Annotator: match by term: Dermatofibrosarcoma protuberans OMIM
ClinVar
PMID:28492532 Ensembl chr 5:8,986,462...9,007,435 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17416
    disease of cellular proliferation 7159
      cancer 5202
        cell type cancer 3594
          sarcoma 267
            fibrosarcoma 16
              dermatofibrosarcoma protuberans 2
Path 2
Term Annotations click to browse term
  disease 17416
    disease of anatomical entity 14866
      Skin and Connective Tissue Diseases 6693
        connective tissue disease 5199
          Connective Tissue Neoplasms 1699
            Fibrous Tissue Neoplasms 58
              fibrosarcoma 16
                dermatofibrosarcoma protuberans 2
paths to the root