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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:Megakaryoblastic Leukemia of Down Syndrome
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Accession:DOID:9000665 term browser browse the term
Synonyms:primary_id: MESH:C566025
 alt_id: RDO:0014506
For additional species annotation, visit the Alliance of Genome Resources.


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Megakaryoblastic Leukemia of Down Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctcf CCCTC-binding factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr19:37,600,151...37,649,674
Ensembl chr19:37,600,148...37,649,673
JBrowse link
G Dcaf7 DDB1 and CUL4 associated factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr10:94,231,585...94,254,046
Ensembl chr10:94,231,585...94,254,046
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr 4:77,284,404...77,347,011
Ensembl chr 4:77,284,404...77,347,011
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Leukemia, megakaryoblastic, of Down syndrome ClinVar PMID:12172547, PMID:14636651 RGD:10450612 NCBI chr  X:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066
JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr10:92,388,045...92,517,449
Ensembl chr10:92,389,530...92,476,109
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
G Rad21 RAD21 cohesin complex component ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr 7:91,511,755...91,538,673
Ensembl chr 7:91,511,756...91,538,673
JBrowse link
G Stag2 stromal antigen 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr  X:128,493,603...128,624,418
Ensembl chr  X:128,493,614...128,624,418
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Megakaryoblastic Leukemia of Down Syndrome 9
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      Hemic and Lymphatic Diseases 2045
        hematopoietic system disease 1641
          Hematologic Neoplasms 834
            hematologic cancer 834
              leukemia 584
                myeloid leukemia 378
                  acute myeloid leukemia 304
                    megakaryocytic leukemia 27
                      Megakaryoblastic Leukemia of Down Syndrome 9
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.