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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:childhood acute megakaryoblastic leukemia
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Accession:DOID:0080794 term browser browse the term
Definition:An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood. (DO)
Synonyms:exact_synonym: acute megakaryoblastic leukemia without Down syndrome;   pediatric non-Down syndrome acute megakaryoblastic leukemia
 xref: EFO:1001943;   NCI:C7972


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childhood acute megakaryoblastic leukemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epor erythropoietin receptor ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia without down syndrome ClinVar PMID:8506290 PMID:17488692 PMID:27993330 NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257 		JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia without down syndrome ClinVar PMID:27993330 NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of cellular proliferation 7667
      Neoplasms by Histologic Type 5258
        leukemia 620
          myeloid leukemia 416
            acute myeloid leukemia 344
              acute megakaryocytic leukemia 30
                childhood acute megakaryoblastic leukemia 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      Hemic and Lymphatic Diseases 3854
        hematopoietic system disease 3344
          Hematologic Neoplasms 1044
            hematologic cancer 1044
              leukemia 620
                myeloid leukemia 416
                  acute myeloid leukemia 344
                    acute megakaryocytic leukemia 30
                      childhood acute megakaryoblastic leukemia 2
paths to the root