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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:B-lymphoblastic leukemia/lymphoma MLL rearranged
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Accession:DOID:0080644 term browser browse the term
Definition:A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein. (DO)
Synonyms:exact_synonym: B LYMPHOBLASTIC LEUKEMIA/LYMPHOMA WITH T(V;11Q23.3);   B lymphoblastic leukemia/lymphoma with t(v;11q23); MLL rearranged;   B-ALL KMT2A rearranged;   B-lymphoblastic leukemia/lymphoma KMT2A rearranged;   B-lymphoblastic leukemia/lymphoma with t(v;11q23.3);KMT2A rearranged;   MIXED PHENOTYPE ACUTE LEUKEMIA WITH T(V;11Q23.3);   precursor B lymphoblastic lymphoma/leukemia with T(V;11Q23.3)
 related_synonym: KMT2A rearranged
 xref: NCI:C80342



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Path 1
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18213
      hematopoietic system disease 3349
        leukocyte disease 1309
          B-cell lymphoma 348
            B-lymphoblastic leukemia/lymphoma 121
              B-lymphoblastic leukemia/lymphoma MLL rearranged 0
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18213
      Immune & Inflammatory Diseases 5573
        immune system disease 4780
          immune system cancer 668
            lymphatic system cancer 668
              lymphoma 580
                lymphoid leukemia 291
                  acute leukemia 279
                    acute lymphoblastic leukemia 277
                      B-cell acute lymphoblastic leukemia 123
                        B-lymphoblastic leukemia/lymphoma 121
                          B-lymphoblastic leukemia/lymphoma MLL rearranged 0
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