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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:myelodysplastic/myeloproliferative neoplasm
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Accession:DOID:4972 term browser browse the term
Definition:A myeloid neoplasm that results_in the overproduction of white blood cells. (DO)
Synonyms:exact_synonym: MDS/MPN;   Myelodysplastic-Myeloproliferative Disease;   Myelodysplastic-Myeloproliferative Diseases;   Myeloproliferative Myelodisplastic Diseases;   Myeloproliferative-Myelodisplastic Disease;   myelodysplastic myeloproliferative cancer;   myelodysplastic syndrome/myeloproliferative neoplasm;   myeloproliferative/myelodysplastic syndromes
 primary_id: MESH:D054437
 xref: EFO:1000388;   NCI:C27262
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
myelodysplastic/myeloproliferative neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dido1 death inducer-obliterator 1 ISS MouseDO NCBI chr 3:167,772,535...167,825,894
Ensembl chr 3:167,772,770...167,817,218 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20601953 PMID:24218139 RGD:11038772 NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362 		JBrowse link
atypical chronic myeloid leukemia, BCR-ABL1 negative term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative ClinVar NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO RGD PMID:15050920 RGD:11352668 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Mfsd11 major facilitator superfamily domain containing 11 ISO ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative ClinVar NCBI chr10:102,055,516...102,075,064
Ensembl chr10:102,056,051...102,075,064 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative ClinVar NCBI chr11:45,325,778...45,560,300
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
G Setbp1 SET binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23222956 NCBI chr18:74,465,616...74,827,455
Ensembl chr18:72,191,035...72,552,556 		JBrowse link
G Srsf2 serine and arginine rich splicing factor 2 ISO ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative ClinVar NCBI chr10:102,052,158...102,055,365
Ensembl chr10:102,052,314...102,055,338 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO ClinVar Annotator: match by term: Atypical chronic myeloid leukemia | ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative ClinVar PMID:22905207 PMID:28492532 NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534 		JBrowse link
chronic myelomonocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asxl1 ASXL transcriptional regulator 1 disease_progression ISO DNA:mutations:exon: RGD PMID:20880116 RGD:11038767 NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538 		JBrowse link
G Cdkn2b cyclin-dependent kinase inhibitor 2B ISO DNA:altered methylation:5'UTR: RGD PMID:12750705 RGD:11252180 NCBI chr 5:109,123,308...109,134,906
Ensembl chr 5:104,010,680...104,019,050 		JBrowse link
G Csf3r colony stimulating factor 3 receptor disease_progression ISO DNA:mutations:multiples: RGD PMID:23774674 RGD:10450469 NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit severity ISO DNA:mutations:multiple (human) RGD PMID:21339759 RGD:10450882 NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362 		JBrowse link
G Kdm6a lysine demethylase 6A ISS MouseDO NCBI chr  X:6,920,374...7,060,027
Ensembl chr  X:4,337,750...4,477,062 		JBrowse link
G Nras NRAS proto-oncogene, GTPase onset ISO RGD PMID:26082490 RGD:11535058 NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO DNA:missense mutations, nonsense mutations, splice-site mutations:multiple RGD PMID:20693430 RGD:11038679 NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534 		JBrowse link
juvenile myelomonocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap12 A-kinase anchoring protein 12 disease_progression ISO RGD PMID:26891149 RGD:14348967 NCBI chr 1:40,730,123...40,819,863
Ensembl chr 1:40,730,123...40,819,886 		JBrowse link
G Arhgap26 Rho GTPase activating protein 26 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia		 OMIM
CTD
ClinVar		 PMID:10908648 NCBI chr18:30,702,602...31,489,047
Ensembl chr18:30,838,671...31,235,194 		JBrowse link
G Asxl1 ASXL transcriptional regulator 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia		 CTD
ClinVar		 PMID:20880116 PMID:21576631 PMID:21881046 PMID:22031865 PMID:22058207 More... NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538 		JBrowse link
G Cbl Cbl proto-oncogene ISO DNA:mutations:cds:
ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD
RGD		 PMID:9536098 PMID:16199547 PMID:17446348 PMID:17576681 PMID:18698078 More... RGD:11038806 NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Csf2 colony stimulating factor 2 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:22315502 PMID:9389708 RGD:10449526 NCBI chr10:38,887,692...38,889,673
Ensembl chr10:38,386,945...38,389,199 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362 		JBrowse link
G Flt3 Fms related receptor tyrosine kinase 3 ISS OMIM:607785 MouseDO NCBI chr12:12,660,035...12,735,584
Ensembl chr12:7,623,930...7,699,474 		JBrowse link
G Gata2 GATA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761 		JBrowse link
G Jak3 Janus kinase 3 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23832011 PMID:23832011 RGD:11069125 NCBI chr16:18,418,807...18,432,515
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia
OMIM:607785		 CTD
ClinVar
MouseDO		 PMID:2547513 PMID:3627975 PMID:7773929 PMID:8439212 PMID:12720172 More... NCBI chr 4:179,916,255...179,949,613 JBrowse link
G Nf1 neurofibromin 1 ISO
ISS		 ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia
OMIM:607785
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1511985 PMID:1568246 PMID:1568247 PMID:1757093 PMID:1783401 More... NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia		 CTD
ClinVar		 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3122217 More... NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO
ISS		 ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia
OMIM:607785
DNA:missense mutations:cds:multiple (human)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:4746100 PMID:9491886 PMID:9536098 PMID:9751050 PMID:11704759 More... RGD:11066398 NCBI chr12:41,026,079...41,085,577
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Rac2 Rac family small GTPase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457648 NCBI chr 7:111,981,825...112,009,201
Ensembl chr 7:110,116,260...110,128,720 		JBrowse link
G Rras RAS related ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chr 1:95,500,582...95,504,362
Ensembl chr 1:95,500,566...95,504,357 		JBrowse link
G Rras2 RAS related 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chr 1:177,668,143...177,737,551
Ensembl chr 1:168,233,693...168,303,111 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chr11:45,325,778...45,560,300
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
G Setbp1 SET binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23832011 PMID:26457647 NCBI chr18:74,465,616...74,827,455
Ensembl chr18:72,191,035...72,552,556 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chr12:40,391,755...40,414,336
Ensembl chr12:34,731,911...34,753,616 		JBrowse link
G Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chr  X:30,547,424...30,571,613
Ensembl chr  X:30,547,536...30,570,125 		JBrowse link
myeloproliferative disorder with eosinophilia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: EOSINOPHILS, MALIGNANT PROLIFERATION OF | ClinVar Annotator: match by term: Myeloproliferative disorder, chronic, with eosinophilia ClinVar PMID:25454926 PMID:25741868 PMID:26455322 PMID:28492532 PMID:29226947 More... NCBI chr18:56,770,348...56,809,228
Ensembl chr18:54,499,964...54,538,843 		JBrowse link
Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: CBL SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17446348 PMID:17576681 PMID:18698078 More... NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia ClinVar PMID:11992261 PMID:12058348 PMID:12161596 PMID:14634749 PMID:14991917 More... NCBI chr12:41,026,079...41,085,577
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      hematopoietic system disease 3835
        bone marrow disease 840
          myelodysplastic/myeloproliferative neoplasm 30
            atypical chronic myeloid leukemia, BCR-ABL1 negative 7
            chronic myelomonocytic leukemia + 8
            juvenile myelomonocytic leukemia + 21
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      Hemic and Lymphatic Diseases 4326
        hematopoietic system disease 3835
          Hematologic Neoplasms 1089
            hematologic cancer 1089
              bone marrow cancer 505
                myeloid neoplasm 320
                  myelodysplastic/myeloproliferative neoplasm 30
                    atypical chronic myeloid leukemia, BCR-ABL1 negative 7
                    chronic myelomonocytic leukemia + 8
                    juvenile myelomonocytic leukemia + 21
paths to the root