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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:granular cell tumor
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Accession:DOID:2411 term browser browse the term
Definition:Unusual tumor affecting any site of the body, but most often encountered in the head and neck. Considerable debate has surrounded the histogenesis of this neoplasm; however, it is considered to be a myoblastoma of, usually, a benign nature. It affects women more often than men. When it develops beneath the epidermis or mucous membrane, it can lead to proliferation of the squamous cells and mimic squamous cell carcinoma.
Synonyms:exact_synonym: granular cell myoblastoma;   granular cell myoblastomas;   granular cell tumors;   neoplasm of granular cell
 xref: EFO:1000284;   GARD:9618;   ICDO:9580/0;   MESH:D016586;   MONDO:0006235;   NCI:C158784;   NCI:C3474
For additional species annotation, visit the Alliance of Genome Resources.


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Malignant Granular Cell Tumor term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brd7 bromodomain containing 7 ISO ClinVar Annotator: match by term: malignant granular cell tumor ClinVar NCBI chr19:34,882,238...34,910,944
Ensembl chr19:18,709,022...18,737,494 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of cellular proliferation 7892
      Neoplasms by Site 7334
        Skin Neoplasms 491
          skin benign neoplasm 189
            granular cell tumor 1
              Malignant Granular Cell Tumor + 1
              breast granular cell tumor 0
              cardiac granular cell neoplasm 0
              granular cell carcinoma 0
              granular cell leiomyosarcoma 0
              granular cell tumor of the sellar region 0
              mediastinal granular cell myoblastoma 0
              skin granular cell tumor 0
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        peripheral nervous system disease 4399
          neuropathy 4187
            neuromuscular disease 3226
              muscular disease 2233
                muscle tissue disease 1358
                  Muscle Tissue Neoplasms 189
                    granular cell tumor 1
                      Malignant Granular Cell Tumor + 1
                      breast granular cell tumor 0
                      cardiac granular cell neoplasm 0
                      granular cell carcinoma 0
                      granular cell leiomyosarcoma 0
                      granular cell tumor of the sellar region 0
                      mediastinal granular cell myoblastoma 0
                      skin granular cell tumor 0
paths to the root