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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 with BCR-ABL1
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Accession:DOID:0080643 term browser browse the term
Definition:A B-lymphoblastic leukemia/lymphoma that derives_from B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. (DO)
Synonyms:exact_synonym: B LYMPHOBLASTIC LEUKEMIA/LYMPHOMA WITH T(9;22)(Q34.1;Q11.2);   B-ALL with BCR-ABL1;   B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1
 broad_synonym: ABL1-RELATED DISORDER
 related_synonym: BCR-ABL1
 xref: ICDO:9812/3;   NCI:C80331

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B-lymphoblastic leukemia/lymphoma with BCR-ABL1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 ClinVar PMID:22658618 PMID:25741868 PMID:28492532 NCBI chr14:59,375,602...59,400,252
Ensembl chr14:59,375,691...59,400,174 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      hematopoietic system disease 3626
        leukocyte disease 1263
          B-cell lymphoma 327
            B-lymphoblastic leukemia/lymphoma 116
              B-lymphoblastic leukemia/lymphoma with BCR-ABL1 1
Path 2
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      Immune & Inflammatory Diseases 5133
        immune system disease 4556
          immune system cancer 612
            lymphatic system cancer 612
              lymphoma 523
                lymphoid leukemia 278
                  acute leukemia 268
                    acute lymphoblastic leukemia 266
                      B-cell acute lymphoblastic leukemia 118
                        B-lymphoblastic leukemia/lymphoma 116
                          B-lymphoblastic leukemia/lymphoma with BCR-ABL1 1
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