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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:myeloid leukemia associated with Down Syndrome
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Accession:DOID:0080798 term browser browse the term
Definition:An acute megakaryocytic leukemia occurring in children with Down syndrome and that has_material_basis_in mutation in the GATA1 gene. (DO)
Synonyms:exact_synonym: ACUTE MEGAKARYOBLASTIC LEUKEMIA IN DOWN SYNDROME;   megakaryoblastic leukemia of Down syndrome
 primary_id: MESH:C566025
 xref: ICDO:9898/3;   NCI:C43223


show annotations for term's descendants           Sort by:
myeloid leukemia associated with 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
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome		 CTD
ClinVar		 PMID:24056718 PMID:27993330 NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123 		JBrowse link
G Dcaf7 DDB1 and CUL4 associated factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr10:90,974,095...90,996,275
Ensembl chr10:90,974,095...90,996,275 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362 		JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome | ClinVar Annotator: match by term: Leukemia, megakaryoblastic, of Down syndrome ClinVar
RGD		 PMID:12172547 PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 More... RGD:10450612 NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530 		JBrowse link
G Jak1 Janus kinase 1 ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome ClinVar PMID:27993330 NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926 		JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951 		JBrowse link
G Mfsd11 major facilitator superfamily domain containing 11 ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome ClinVar PMID:27993330 NCBI chr10:102,055,516...102,075,064
Ensembl chr10:102,056,051...102,075,064 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome		 CTD
ClinVar		 PMID:2407301 PMID:2674680 PMID:2989702 PMID:8120410 PMID:16291983 More... NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome ClinVar PMID:15384080 PMID:16358218 PMID:16804314 PMID:17020470 PMID:24803665 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Rad21 RAD21 cohesin complex component ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome		 CTD
ClinVar		 PMID:24056718 PMID:27993330 NCBI chr 7:83,287,867...83,314,810
Ensembl chr 7:83,287,870...83,314,817 		JBrowse link
G Srsf2 serine and arginine rich splicing factor 2 ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome ClinVar PMID:27993330 NCBI chr10:102,052,158...102,055,365
Ensembl chr10:102,052,314...102,055,338 		JBrowse link
G Stag2 STAG2 cohesin complex component ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr  X:120,974,687...121,105,677
Ensembl chr  X:120,974,857...121,105,677 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19087
    syndrome 11180
      myeloid leukemia associated with Down Syndrome 13
Path 2
Term Annotations click to browse term
  disease 19087
    disease of anatomical entity 18376
      Hemic and Lymphatic Diseases 4043
        hematopoietic system disease 3531
          Hematologic Neoplasms 1092
            hematologic cancer 1092
              leukemia 667
                myeloid leukemia 458
                  acute myeloid leukemia 386
                    acute megakaryocytic leukemia 30
                      myeloid leukemia associated with Down Syndrome 13
paths to the root