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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:tenosynovial giant cell tumor
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Accession:DOID:314 term browser browse the term
Definition:A tumor arising in the SYNOVIAL MEMBRANE; SYNOVIAL BURSA; or TENDON sheath. It is characterized by OSTEOCLAST-like GIANT CELLS; FOAM CELLS; pigmented HEMOSIDERIN-laden MACROPHAGES and inflammatory infiltrate. It is classified either as diffuse or localized tenosynovitis.
Synonyms:exact_synonym: Giant cell tumour of Tenosynovium;   Localized Giant Cell Tumor of the Tendon Sheath;   Localized Nodular Tenosynovitides;   Localized Nodular Tenosynovitis;   Localized Pigmented Villonodular Synovitis;   Nodular Tenosynovitides;   fibrous histiocytoma of tendon sheath;   giant cell tumor of tendon sheath;   giant cell tumor of tenosynovium;   giant cell tumour of tendon sheath;   nodular tenosynovitis;   tenosynovial giant cell tumour
 primary_id: MESH:D000070779
 xref: EFO:1000562;   ICD9CM:727.02;   ICDO:9252/0;   NCI:C3402
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tenosynovial giant cell tumor term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnf1b HNF1 homeobox B ISO CTD Direct Evidence: marker/mechanism CTD PMID:39887605 NCBI chrNW_004624871:4,662,104...4,713,125
Ensembl chrNW_004624871:4,661,669...4,712,960 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14234
    Wounds and Injuries 898
      Tendon Injuries 16
        tendinitis 6
          tenosynovial giant cell tumor 1
            pigmented villonodular synovitis 0
Path 2
Term Annotations click to browse term
  disease 14234
    disease of anatomical entity 13936
      nervous system disease 12272
        peripheral nervous system disease 4083
          neuropathy 3905
            neuromuscular disease 3011
              muscular disease 2085
                muscle tissue disease 1256
                  Muscle Tissue Neoplasms 185
                    musculoskeletal system benign neoplasm 128
                      connective tissue benign neoplasm 79
                        bone benign neoplasm 32
                          benign giant cell tumor 2
                            tenosynovial giant cell tumor 1
                              pigmented villonodular synovitis 0
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