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ONTOLOGY REPORT - ANNOTATIONS


Term:myelodysplastic syndrome
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Accession:DOID:0050908 term browser browse the term
Definition:Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA.
Synonyms:exact_synonym: Dysmyelopoietic Syndrome;   Hematopoetic Myelodysplasia;   MDS;   dysmyelopoietic syndromes;   hematopoetic myelodysplasias;   myelodysplastic syndromes
 narrow_synonym: myelodysplastic syndrome progressed to acute myeloid leukemia
 related_synonym: Myelodysplastic Syndrome, Susceptibility To
 primary_id: MESH:D009190
 alt_id: OMIM:614286;   RDO:0004836
 xref: GARD:7132
For additional species annotation, visit the Alliance of Genome Resources.


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myelodysplastic syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arpc1b actin related protein 2/3 complex, subunit 1B JBrowse link 12 11,252,300 11,265,849 RGD:11046272
G Asxl1 ASXL transcriptional regulator 1 JBrowse link 3 148,832,231 148,902,356 RGD:7240710
RGD:8554872
RGD:11554173
RGD:11038769
RGD:10450876
RGD:11038712
RGD:11038707
G Atg7 autophagy related 7 JBrowse link 4 146,570,113 146,777,093 RGD:13592920
G Atrx ATRX, chromatin remodeler JBrowse link X 76,820,110 76,979,155 RGD:11554173
G Bap1 Brca1 associated protein 1 JBrowse link 16 7,336,685 7,345,511 RGD:13592920
G Bcl2l10 BCL2 like 10 JBrowse link 8 82,288,705 82,294,750 RGD:11058140
RGD:14392809
G Bmi1 BMI1 proto-oncogene, polycomb ring finger JBrowse link 17 85,360,439 85,370,283 RGD:11554173
G Cd40 CD40 molecule JBrowse link 3 161,519,789 161,534,943 RGD:11520793
G Cdkn1b cyclin-dependent kinase inhibitor 1B JBrowse link 4 168,689,043 168,694,159 RGD:10450601
G Cdkn2a cyclin-dependent kinase inhibitor 2A JBrowse link 5 107,823,323 107,832,405 RGD:11251750
G Cdkn2b cyclin-dependent kinase inhibitor 2B JBrowse link 5 107,834,353 107,857,428 RGD:11251750
RGD:11554173
RGD:11252195
RGD:11252169
G Cflar CASP8 and FADD-like apoptosis regulator JBrowse link 9 65,534,608 65,586,395 RGD:11341680
RGD:11554173
G Crebbp CREB binding protein JBrowse link 10 11,590,994 11,721,039 RGD:13592920
G Csf3r colony stimulating factor 3 receptor JBrowse link 5 144,031,353 144,051,966 RGD:10450471
RGD:10450504
G Ctnna1 catenin alpha 1 JBrowse link 18 27,923,229 28,055,972 RGD:11554173
G Dapk1 death associated protein kinase 1 JBrowse link 17 4,297,038 4,454,941 RGD:11554173
G Ddx42 DEAD-box helicase 42 JBrowse link 10 94,407,094 94,439,052 RGD:9850279
G Dlk1 delta like non-canonical Notch ligand 1 JBrowse link 6 133,576,513 133,583,751 RGD:11554173
G Dnmt3a DNA methyltransferase 3 alpha JBrowse link 6 28,205,375 28,346,052 RGD:11041122
RGD:8554872
RGD:11041124
G Egr1 early growth response 1 JBrowse link 18 27,657,903 27,660,101 RGD:13592920
G Epo erythropoietin JBrowse link 12 22,274,828 22,278,268 RGD:11554173
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:11252197
RGD:11075607
G Etv6 ets variant 6 JBrowse link 4 167,754,684 167,992,370 RGD:1581019
RGD:10450605
RGD:10450601
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit JBrowse link 4 77,284,404 77,347,011 RGD:10450880
RGD:11554173
RGD:10450887
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:11049447
RGD:11049448
G Faslg Fas ligand JBrowse link 13 79,696,811 79,717,581 RGD:11049447
RGD:11049448
G Fcgr3a Fc fragment of IgG receptor IIIa JBrowse link 13 89,385,775 89,396,047 RGD:11352253
G Flt3 fms-related tyrosine kinase 3 JBrowse link 12 9,360,439 9,437,004 RGD:8554872
G Gata1 GATA binding protein 1 JBrowse link X 15,273,937 15,281,759 RGD:10450734
RGD:13592920
RGD:10450753
RGD:10450752
G Gata2 GATA binding protein 2 JBrowse link 4 120,129,028 120,142,490 RGD:7240710
RGD:8554872
RGD:11554173
RGD:10450753
G Gfi1 growth factor independent 1 transcriptional repressor JBrowse link 14 3,058,035 3,073,332 RGD:11040459
G Gnb1 G protein subunit beta 1 JBrowse link 5 172,914,025 172,981,403 RGD:8554872
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:10450800
RGD:10450836
G Gstp1 glutathione S-transferase pi 1 JBrowse link 1 219,291,679 219,294,147 RGD:10755416
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:10450772
RGD:10450840
RGD:10450779
G Hfe homeostatic iron regulator JBrowse link 17 43,661,276 43,669,327 RGD:10755559
RGD:11554173
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:8554872
G Idh1 isocitrate dehydrogenase (NADP(+)) 1, cytosolic JBrowse link 9 71,882,108 71,911,645 RGD:11522722
RGD:8554872
G Idh2 isocitrate dehydrogenase (NADP(+)) 2, mitochondrial JBrowse link 1 141,874,354 141,893,674 RGD:8554872
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:10450881
G Itgb3 integrin subunit beta 3 JBrowse link 10 92,667,869 92,783,413 RGD:10755468
G Kmt2e lysine methyltransferase 2E JBrowse link 4 8,187,751 8,255,578 RGD:9588548
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:11554173
G Lrrc56 leucine rich repeat containing 56 JBrowse link 1 214,182,232 214,197,184 RGD:8554872
G Lyl1 LYL1, basic helix-loop-helix family member JBrowse link 19 25,815,207 25,818,074 RGD:11554173
G Mdm2 MDM2 proto-oncogene JBrowse link 7 60,719,060 60,743,618 RGD:11073731
G Mefv MEFV, pyrin innate immunity regulator JBrowse link 10 12,045,813 12,056,229 RGD:11531114
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 1 37,743,089 37,774,485 RGD:11075096
G Mybl2 MYB proto-oncogene like 2 JBrowse link 3 159,421,638 159,450,087 RGD:13592920
G Myc MYC proto-oncogene, bHLH transcription factor JBrowse link 7 102,586,313 102,591,240 RGD:11554173
G Npm1 nucleophosmin 1 JBrowse link 10 18,080,949 18,091,062 RGD:8554872
RGD:13592920
G Nqo1 NAD(P)H quinone dehydrogenase 1 JBrowse link 19 38,422,210 38,437,103 RGD:10769356
G Nras NRAS proto-oncogene, GTPase JBrowse link 2 205,553,119 205,563,716 RGD:11535060
RGD:8554872
G Plcb1 phospholipase C beta 1 JBrowse link 3 127,721,244 128,419,565 RGD:11535164
RGD:11554173
RGD:11535956
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:13592920
G Prame preferentially expressed antigen in melanoma JBrowse link X 106,082,984 106,091,256 RGD:11535028
G Rap1gap Rap1 GTPase-activating protein JBrowse link 5 156,008,868 156,074,350 RGD:9835346
G Runx1 runt-related transcription factor 1 JBrowse link 11 32,765,147 33,003,061 RGD:11251705
RGD:11554173
G Samd9 sterile alpha motif domain containing 9 JBrowse link 4 28,304,967 28,324,637 RGD:11554173
RGD:13592920
G Sf3b1 splicing factor 3b, subunit 1 JBrowse link 9 61,594,620 61,634,510 RGD:7240710
RGD:8554872
G Sf3b2 splicing factor 3b, subunit 2 JBrowse link 1 220,645,685 220,665,611 RGD:8554872
G Slc22a5 solute carrier family 22 member 5 JBrowse link 10 39,201,101 39,228,090 RGD:1580610
G Smpd3 sphingomyelin phosphodiesterase 3 JBrowse link 19 38,237,963 38,321,572 RGD:11554173
G Sphk1 sphingosine kinase 1 JBrowse link 10 105,498,728 105,504,401 RGD:11554173
G Srsf11 serine and arginine rich splicing factor 11 JBrowse link 2 264,837,463 264,864,296 RGD:11038800
G Srsf2 serine and arginine rich splicing factor 2 JBrowse link 10 105,792,779 105,795,986 RGD:11039052
RGD:13592920
G Stag2 stromal antigen 2 JBrowse link X 128,493,603 128,624,418 RGD:11554173
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:11038659
RGD:11038661
G Tet2 tet methylcytosine dioxygenase 2 JBrowse link 2 238,719,389 238,802,975 RGD:7240710
RGD:11554173
RGD:10450876
RGD:11038679
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:10450530
RGD:10450881
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:11073714
RGD:8554872
RGD:11554173
RGD:11057925
RGD:11075071
RGD:11073731
RGD:11073729
G U2af1 U2 small nuclear RNA auxiliary factor 1 JBrowse link 20 10,396,652 10,407,564 RGD:11554173
RGD:8554872
G Xrcc1 X-ray repair cross complementing 1 JBrowse link 1 81,412,635 81,441,680 RGD:11075607
G Zfpm2 zinc finger protein, multitype 2 JBrowse link 7 79,471,277 79,964,405 RGD:1580640
G Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 JBrowse link X 32,304,707 32,327,419 RGD:11554173
Alpha-Thalassemia Myelodysplasia Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atrx ATRX, chromatin remodeler JBrowse link X 76,820,110 76,979,155 RGD:7240710
RGD:8554872
Anemia, Hypochromic Microcytic, with Iron Overload term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc11a2 solute carrier family 11 member 2 JBrowse link 7 142,025,812 142,062,892 RGD:8554872
RGD:7240710
RGD:11554173
G Steap3 STEAP3 metalloreductase JBrowse link 13 36,257,220 36,274,144 RGD:11554173
Anemia, Refractory, with Excess of Blasts term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Birc5 baculoviral IAP repeat-containing 5 JBrowse link 10 106,856,097 106,864,419 RGD:11038658
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:11041158
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:11041158
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:11038658
G Tet2 tet methylcytosine dioxygenase 2 JBrowse link 2 238,719,389 238,802,975 RGD:11038682
autosomal dominant sideroblastic anemia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspa9 heat shock protein family A member 9 JBrowse link 18 27,731,072 27,749,235 RGD:8554872
RGD:7240710
RGD:13592920
autosomal recessive pyridoxine-refractory sideroblastic anemia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glrx5 glutaredoxin 5 JBrowse link 6 128,750,503 128,760,880 RGD:8554872
G Slc25a38 solute carrier family 25, member 38 JBrowse link 8 128,790,348 128,802,988 RGD:7240710
RGD:8554872
autosomal recessive pyridoxine-refractory sideroblastic anemia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glrx5 glutaredoxin 5 JBrowse link 6 128,750,503 128,760,880 RGD:8554872
RGD:7240710
RGD:13592920
Bone Marrow Failure Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Srp72 signal recognition particle 72 JBrowse link 14 33,447,583 33,453,788 RGD:8554872
RGD:7240710
Bone Marrow Failure Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc6l2 ERCC excision repair 6 like 2 JBrowse link 17 1,325,654 1,421,732 RGD:7240710
RGD:8554872
Bone Marrow Failure Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 JBrowse link 2 60,419,446 60,446,656 RGD:8554872
RGD:7240710
Bone Marrow Failure Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mysm1 myb-like, SWIRM and MPN domains 1 JBrowse link 5 113,902,115 113,939,083 RGD:7240710
Bone Marrow Failure Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:7240710
Bone Marrow Failure Syndromes term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Csf2 colony stimulating factor 2 JBrowse link 10 39,602,089 39,604,070 RGD:11554173
G Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 JBrowse link 2 60,419,446 60,446,656 RGD:8554872
RGD:11554173
G Ercc6l2 ERCC excision repair 6 like 2 JBrowse link 17 1,325,654 1,421,732 RGD:11554173
G Srp72 signal recognition particle 72 JBrowse link 14 33,447,583 33,453,788 RGD:11554173
Ghosal Hematodiaphyseal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbxas1 thromboxane A synthase 1 JBrowse link 4 66,624,181 66,846,745 RGD:7240710
RGD:8554872
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lars2 leucyl-tRNA synthetase 2, mitochondrial JBrowse link 8 132,441,277 132,537,176 RGD:8554872
RGD:7240710
RGD:11554173
paroxysmal nocturnal hemoglobinuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:11040769
G C5 complement C5 JBrowse link 3
3
14,049,993
14,206,466
14,113,931
14,229,141
RGD:7240710
RGD:8554872
G Cxcr4 C-X-C motif chemokine receptor 4 JBrowse link 13 45,314,952 45,318,856 RGD:11352266
G Piga phosphatidylinositol glycan anchor biosynthesis, class A JBrowse link X 31,786,823 31,799,751 RGD:7240710
RGD:8554872
RGD:11554173
RGD:11087560
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T JBrowse link 3 160,945,556 160,954,738 RGD:11554173
RGD:8554872
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:11041765
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:11041765
Paroxysmal Nocturnal Hemoglobinuria 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T JBrowse link 3 160,945,556 160,954,738 RGD:7240710
RGD:8554872
Primary Lymphedema with Myelodysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gata2 GATA binding protein 2 JBrowse link 4 120,129,028 120,142,490 RGD:7240710
RGD:8554872
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rtel1 regulator of telomere elongation helicase 1 JBrowse link 3 176,818,012 176,856,531 RGD:8554872
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:7240710
RGD:8554872
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Terc telomerase RNA component JBrowse link 2 116,432,723 116,433,110 RGD:7240710
RGD:8554872
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rtel1 regulator of telomere elongation helicase 1 JBrowse link 3 176,818,012 176,856,531 RGD:7240710
RGD:8554872
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Parn poly(A)-specific ribonuclease JBrowse link 10 1,309,724 1,461,123 RGD:8554872
RGD:7240710
Refractory Anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Birc5 baculoviral IAP repeat-containing 5 JBrowse link 10 106,856,097 106,864,419 RGD:11038658
G Flt3lg fms-related tyrosine kinase 3 ligand JBrowse link 1 101,126,006 101,131,413 RGD:11049479
G Hfe homeostatic iron regulator JBrowse link 17 43,661,276 43,669,327 RGD:10755539
G Tcn2 transcobalamin 2 JBrowse link 14 84,173,992 84,189,299 RGD:11060122
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:11038658
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:11554173
G Ybx1 Y box binding protein 1 JBrowse link 5 138,319,754 138,336,721 RGD:1580637
sideroblastic anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb7 ATP binding cassette subfamily B member 7 JBrowse link X 75,150,511 75,291,950 RGD:11038732
RGD:11554173
G Alad aminolevulinate dehydratase JBrowse link 5 78,368,867 78,379,206 RGD:12904678
G Alas2 5'-aminolevulinate synthase 2 JBrowse link X 23,167,576 23,187,356 RGD:1599037
RGD:11554173
G Calr calreticulin JBrowse link 19 25,956,771 25,961,666 RGD:11352763
G Gdf15 growth differentiation factor 15 JBrowse link 16 20,555,395 20,557,978 RGD:11554173
G Glrx5 glutaredoxin 5 JBrowse link 6 128,750,503 128,760,880 RGD:11554173
G Hspa9 heat shock protein family A member 9 JBrowse link 18 27,731,072 27,749,235 RGD:11554173
G Mt-co1 mitochondrially encoded cytochrome c oxidase 1 JBrowse link MT 5,323 6,867 RGD:8554872
G Slc25a38 solute carrier family 25, member 38 JBrowse link 8 128,790,348 128,802,988 RGD:11554173
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
G Tfrc transferrin receptor JBrowse link 11 71,397,423 71,419,263 RGD:11062136
sideroblastic anemia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alas2 5'-aminolevulinate synthase 2 JBrowse link X 23,167,576 23,187,356 RGD:7240710
RGD:8554872
RGD:11554173
RGD:11035244
RGD:11035243
RGD:11035241
G Slc25a38 solute carrier family 25, member 38 JBrowse link 8 128,790,348 128,802,988 RGD:8554872
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trnt1 tRNA nucleotidyl transferase 1 JBrowse link 4 138,855,497 138,869,217 RGD:8554872
RGD:7240710
X-linked sideroblastic anemia with ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb7 ATP binding cassette subfamily B member 7 JBrowse link X 75,150,511 75,291,950 RGD:1598600
RGD:8554872
RGD:11554173
RGD:11038735
RGD:11038734
RGD:7240710
G Alas2 5'-aminolevulinate synthase 2 JBrowse link X 23,167,576 23,187,356 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      myelodysplastic syndrome 111
        Alpha-Thalassemia Myelodysplasia Syndrome 1
        Monosomy 7 of Bone Marrow 0
        Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 0
        Primary Lymphedema with Myelodysplasia 1
        Refractory Anemia + 26
        paroxysmal nocturnal hemoglobinuria + 17
        sideroblastic anemia + 15
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      Hemic and Lymphatic Diseases 1573
        hematopoietic system disease 1355
          Hematologic Neoplasms 767
            Bone Marrow Neoplasms 283
              bone marrow cancer 283
                myelodysplastic syndrome 111
                  Alpha-Thalassemia Myelodysplasia Syndrome 1
                  Monosomy 7 of Bone Marrow 0
                  Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 0
                  Primary Lymphedema with Myelodysplasia 1
                  Refractory Anemia + 26
                  paroxysmal nocturnal hemoglobinuria + 17
                  sideroblastic anemia + 15
paths to the root