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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:TFEB-rearranged renal cell carcinoma
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Accession:DOID:0081414 term browser browse the term
Definition:A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, located on chromosome 6, with the MALAT1 gene, located on chromosome 11. (DO)
Synonyms:exact_synonym: Renal Cell Carcinoma with t(6;11);(p21;q12); MALAT1::TFEB;   t(6;11) Renal Cell Carcinoma;   t(6;11);(p21;q12) Renal Cell Carcinoma
 xref: NCI:C37210


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    disease of cellular proliferation 7791
      cancer 5635
        cell type cancer 3841
          carcinoma 3280
            adenocarcinoma 1713
              renal cell carcinoma 361
                renal cell carcinoma with MiT translocations 0
                  TFEB-rearranged renal cell carcinoma 0
Path 2
Term Annotations click to browse term
  disease 19051
    disease of cellular proliferation 7791
      Neoplasms by Site 7247
        Urogenital Neoplasms 2207
          Urologic Neoplasms 744
            urinary system cancer 690
              kidney cancer 492
                renal carcinoma 367
                  renal cell carcinoma 361
                    renal cell carcinoma with MiT translocations 0
                      TFEB-rearranged renal cell carcinoma 0
paths to the root