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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:acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)
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Accession:DOID:0081084 term browser browse the term
Definition:An acute myeloid leukemia that is characterized by the presence of abnormal bone marrow eosinophils and the characteristic cytogenetic abnormality inv(16)(p13.1q22) or t(16;16)(p13.1;q22), which results in the expression of the fusion protein CBFB-MYH11. (DO)
Synonyms:exact_synonym: Acute Myeloid Leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11;   acute myeloid leukemia with abnormal marrow eosinophils
 xref: ICDO:9871/3;   NCI:C9287


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of cellular proliferation 7691
      Neoplasms by Histologic Type 5287
        leukemia 625
          myeloid leukemia 417
            acute myeloid leukemia 345
              acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Hemic and Lymphatic Diseases 3849
        hematopoietic system disease 3339
          Hematologic Neoplasms 1050
            hematologic cancer 1050
              leukemia 625
                myeloid leukemia 417
                  acute myeloid leukemia 345
                    acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) 0
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