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ONTOLOGY REPORT - ANNOTATIONS


Term:Trisomy
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Accession:DOID:9003960 term browser browse the term
Definition:The possession of a third chromosome of any one type in an otherwise diploid cell.
Synonyms:exact_synonym: Chromosomal Triplication;   Partial Trisomies;   Partial Trisomy;   chromosomal triplications;   trisomies
 primary_id: MESH:D014314
For additional species annotation, visit the Alliance of Genome Resources.


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Trisomy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdkn2a cyclin-dependent kinase inhibitor 2A JBrowse link 5 107,823,323 107,832,405 RGD:11554173
Chromosome 8, Trisomy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nqo1 NAD(P)H quinone dehydrogenase 1 JBrowse link 19 38,422,210 38,437,103 RGD:10769356
Down syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actr1a actin related protein 1A JBrowse link 1 266,123,864 266,142,621 RGD:13831340
G Arpc4 actin related protein 2/3 complex, subunit 4 JBrowse link 4 145,330,457 145,340,985 RGD:11570562
G Bnip1 BCL2 interacting protein 1 JBrowse link 10 16,677,077 16,689,321 RGD:14398459
G Brip1 BRCA1 interacting protein C-terminal helicase 1 JBrowse link 10 73,507,009 73,632,742 RGD:11252150
G Calca calcitonin-related polypeptide alpha JBrowse link 1 184,184,018 184,188,922 RGD:11554173
G Ctss cathepsin S JBrowse link 2 197,655,780 197,679,768 RGD:5686914
G Dbn1 drebrin 1 JBrowse link 17 9,679,511 9,693,878 RGD:10398822
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A JBrowse link 11 34,858,339 34,958,733 RGD:13592920
RGD:14974030
RGD:14974029
RGD:14973377
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:5688738
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 18 25,037,668 25,068,380 RGD:13207452
G Fabp3 fatty acid binding protein 3 JBrowse link 5 148,528,854 148,535,597 RGD:1578460
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase JBrowse link 11 31,780,477 31,805,728 RGD:5143983
G Gata1 GATA binding protein 1 JBrowse link X 15,273,937 15,281,759 RGD:7240710
RGD:8554872
G Gdi2 GDP dissociation inhibitor 2 JBrowse link 17 70,299,177 70,325,864 RGD:13208830
G Gstm2 glutathione S-transferase mu 2 JBrowse link 2 210,778,041 210,782,807 RGD:11554173
G Hnmt histamine N-methyltransferase JBrowse link 3 905,111 937,038 RGD:5509779
G Hspd1 heat shock protein family D (Hsp60) member 1 JBrowse link 9 61,680,529 61,691,202 RGD:10402838
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12743600
G Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 JBrowse link 11 35,011,007 35,262,362 RGD:6483052
G Mir125b2 microRNA 125b-2 JBrowse link 11 16,097,346 16,097,433 RGD:11554173
G Mir155 microRNA 155 JBrowse link 11 24,176,603 24,176,667 RGD:11554173
G Mir802 microRNA 802 JBrowse link 11 33,570,256 33,570,351 RGD:11554173
G Mir99a microRNA 99a JBrowse link 11 16,052,153 16,052,233 RGD:11554173
G Mirlet7c1 microRNA let-7c-1 JBrowse link 11 16,052,873 16,052,966 RGD:11554173
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204810
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 JBrowse link 6 99,282,850 99,350,367 RGD:12910959
RGD:12914150
RGD:12910960
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:11554173
RGD:11565177
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 1 37,743,089 37,774,485 RGD:8554872
G Myl7 myosin light chain 7 JBrowse link 14 86,144,770 86,147,075 RGD:1580934
G Napb NSF attachment protein beta JBrowse link 3 143,017,571 143,063,904 RGD:10412652
G Ntf3 neurotrophin 3 JBrowse link 4 158,636,883 158,705,886 RGD:11554173
G Pcnt pericentrin JBrowse link 20 12,943,523 13,038,615 RGD:11537399
RGD:11537404
G Prdx2 peroxiredoxin 2 JBrowse link 19 26,084,816 26,090,095 RGD:11554173
G Prdx6 peroxiredoxin 6 JBrowse link 13 79,077,567 79,088,113 RGD:11554173
G Rcan1 regulator of calcineurin 1 JBrowse link 11 32,539,689 32,620,274 RGD:11554173
G Reln reelin JBrowse link 4 9,347,533 9,774,257 RGD:13207521
G Rplp0 ribosomal protein lateral stalk subunit P0 JBrowse link 12 46,791,528 46,794,797 RGD:11039463
G S100b S100 calcium binding protein B JBrowse link 20 13,130,633 13,142,856 RGD:11554173
G Slc19a1 solute carrier family 19 member 1 JBrowse link 20 12,334,675 12,354,517 RGD:11554173
G Snap25 synaptosome associated protein 25 JBrowse link 3 129,697,408 129,788,417 RGD:1579958
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:8655616
RGD:11554173
G Srsf4 serine and arginine rich splicing factor 4 JBrowse link 5 150,032,999 150,060,769 RGD:11039402
G Timp1 TIMP metallopeptidase inhibitor 1 JBrowse link X 1,364,771 1,369,451 RGD:13204810
G Tuba1a tubulin, alpha 1A JBrowse link 7 140,637,287 140,640,953 RGD:12859084
G Vip vasoactive intestinal peptide JBrowse link 1 42,169,307 42,177,582 RGD:5685613
RGD:11554173
Megakaryoblastic Leukemia of Down Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctcf CCCTC-binding factor JBrowse link 19 37,600,151 37,649,674 RGD:11554173
G Dcaf7 DDB1 and CUL4 associated factor 7 JBrowse link 10 94,231,585 94,254,046 RGD:11554173
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit JBrowse link 4 77,284,404 77,347,011 RGD:11554173
G Gata1 GATA binding protein 1 JBrowse link X 15,273,937 15,281,759 RGD:8554872
RGD:10450612
G Kansl1 KAT8 regulatory NSL complex subunit 1 JBrowse link 10 92,388,045 92,517,449 RGD:11554173
G Nras NRAS proto-oncogene, GTPase JBrowse link 2 205,553,119 205,563,716 RGD:11554173
G Rad21 RAD21 cohesin complex component JBrowse link 7 91,511,755 91,538,673 RGD:11554173
G Stag2 stromal antigen 2 JBrowse link X 128,493,603 128,624,418 RGD:11554173
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:11554173
Potocki-Lupski syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akap10 A-kinase anchoring protein 10 JBrowse link 10 48,150,902 48,210,074 RGD:8554872
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 JBrowse link 10 47,490,168 47,499,855 RGD:8554872
G Aldh3a2 aldehyde dehydrogenase 3 family, member A2 JBrowse link 10 47,525,486 47,546,535 RGD:8554872
G Alkbh5 alkB homolog 5, RNA demethylase JBrowse link 10 46,906,314 46,927,759 RGD:8554872
G Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 JBrowse link 10 46,768,539 46,783,889 RGD:8554872
G B9d1 B9 domain containing 1 JBrowse link 10 47,784,294 47,794,399 RGD:8554872
G Cops3 COP9 signalosome subunit 3 JBrowse link 10 46,182,680 46,206,083 RGD:8554872
G Drc3 dynein regulatory complex subunit 3 JBrowse link 10 46,712,021 46,762,276 RGD:8554872
G Drg2 developmentally regulated GTP binding protein 2 JBrowse link 10 46,818,412 46,831,308 RGD:8554872
G Epn2 epsin 2 JBrowse link 10 47,795,496 47,857,373 RGD:8554872
G Fam83g family with sequence similarity 83, member G JBrowse link 10 47,960,735 47,984,083 RGD:8554872
G Fbxw10 F-box and WD repeat domain containing 10 JBrowse link 10 49,259,050 49,296,714 RGD:8554872
G Flcn folliculin JBrowse link 10 46,153,185 46,172,331 RGD:11554173
RGD:8554872
G Flii FLII, actin remodeling protein JBrowse link 10 46,955,460 46,969,468 RGD:8554872
G Gid4 GID complex subunit 4 JBrowse link 10 46,784,124 46,810,517 RGD:8554872
G Grap GRB2-related adaptor protein JBrowse link 10 47,930,633 47,949,774 RGD:8554872
G Llgl1 LLGL scribble cell polarity complex component 1 JBrowse link 10 46,940,873 46,955,524 RGD:8554872
G Mapk7 mitogen-activated protein kinase 7 JBrowse link 10 47,768,592 47,775,130 RGD:8554872
G Med9 mediator complex subunit 9 JBrowse link 10 46,314,639 46,329,374 RGD:8554872
G Mfap4 microfibril associated protein 4 JBrowse link 10 47,765,463 47,768,484 RGD:8554872
G Mief2 mitochondrial elongation factor 2 JBrowse link 10 46,969,531 46,975,572 RGD:8554872
G Mprip myosin phosphatase Rho interacting protein JBrowse link 10 46,018,397 46,133,580 RGD:8554872
G Myo15a myosin XVA JBrowse link 10 46,840,098 46,897,362 RGD:8554872
G Nt5m 5',3'-nucleotidase, mitochondrial JBrowse link 10 46,216,494 46,244,478 RGD:8554872
G Pemt phosphatidylethanolamine N-methyltransferase JBrowse link 10 46,339,821 46,404,640 RGD:8554872
G Pld6 phospholipase D family, member 6 JBrowse link 10 46,142,313 46,145,774 RGD:8554872
G Prpsap2 phosphoribosyl pyrophosphate synthetase-associated protein 2 JBrowse link 10 48,008,799 48,044,435 RGD:8554872
G Rai1 retinoic acid induced 1 JBrowse link 10 46,511,271 46,571,591 RGD:11554173
RGD:8554872
G Rasd1 ras related dexamethasone induced 1 JBrowse link 10 46,330,361 46,339,326 RGD:8554872
G Rnf112 ring finger protein 112 JBrowse link 10 47,719,034 47,726,050 RGD:8554872
G Shmt1 serine hydroxymethyltransferase 1 JBrowse link 10 47,030,813 47,059,216 RGD:8554872
G Slc47a1 solute carrier family 47 member 1 JBrowse link 10 47,631,425 47,685,379 RGD:8554872
G Slc47a2 solute carrier family 47 member 2 JBrowse link 10 47,587,909 47,631,373 RGD:8554872
G Slc5a10 solute carrier family 5 member 10 JBrowse link 10 47,949,775 47,997,802 RGD:8554872
G Smcr8 SMCR8-C9orf72 complex subunit JBrowse link 10 47,019,326 47,026,465 RGD:8554872
G Specc1 sperm antigen with calponin homology and coiled-coil domains 1 JBrowse link 10 48,240,291 48,542,171 RGD:8554872
G Srebf1 sterol regulatory element binding transcription factor 1 JBrowse link 10 46,570,996 46,593,021 RGD:8554872
G Tnfrsf13b TNF receptor superfamily member 13B JBrowse link 10 47,399,834 47,422,907 RGD:8554872
G Tom1l2 target of myb1 like 2 membrane trafficking protein JBrowse link 10 46,599,392 46,720,921 RGD:8554872
G Top3a DNA topoisomerase III alpha JBrowse link 10 46,980,646 47,018,728 RGD:8554872
G Tvp23b trans-golgi network vesicle protein 23 homolog B JBrowse link 10 49,299,125 49,312,814 RGD:8554872
G Ulk2 unc-51 like autophagy activating kinase 2 JBrowse link 10 48,050,079 48,129,377 RGD:8554872
transient myeloproliferative syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gata1 GATA binding protein 1 JBrowse link X 15,273,937 15,281,759 RGD:10450612
RGD:11554173
G Runx1 RUNX family transcription factor 1 JBrowse link 11 32,765,147 33,003,061 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    syndrome 5791
      chromosomal duplication syndrome 110
        Trisomy 98
          6q+ Syndrome, Partial 0
          Chromosome 1, Duplication 1p21 p32 0
          Chromosome 1, Trisomy 1q32 qter 0
          Chromosome 1, Trisomy 1q42 qter 0
          Chromosome 1, Uniparental Disomy 1q12 q21 0
          Chromosome 1, q42 11 q42 12 Duplication 0
          Chromosome 10, Trisomy 10p 0
          Chromosome 10, Trisomy 10pter p13 0
          Chromosome 10, Uniparental Disomy of 0
          Chromosome 10q Duplication Syndrome 0
          Chromosome 11, Partial Trisomy 11q 0
          Chromosome 11q Trisomy 0
          Chromosome 12, 12p Trisomy 0
          Chromosome 12, Trisomy 12q 0
          Chromosome 13p Duplication 0
          Chromosome 13q Trisomy 0
          Chromosome 14 Trisomy 0
          Chromosome 14, Trisomy Mosaic 0
          Chromosome 14q, Proximal Duplication 0
          Chromosome 14q, Terminal Duplication 0
          Chromosome 15, Trisomy Mosaicism 0
          Chromosome 15q, Trisomy 0
          Chromosome 16, Trisomy 0
          Chromosome 16, Trisomy 16q 0
          Chromosome 17 Trisomy 0
          Chromosome 17, Trisomy 17p 0
          Chromosome 17, Trisomy 17q22 0
          Chromosome 18, Trisomy 18p 0
          Chromosome 18, Trisomy 18q 0
          Chromosome 19, Trisomy 19q 0
          Chromosome 1q, Duplication 1q12 q21 0
          Chromosome 2, Trisomy 2p 0
          Chromosome 2, Trisomy 2p13 p21 0
          Chromosome 2, Trisomy 2pter p24 0
          Chromosome 2, Trisomy 2q 0
          Chromosome 2, Trisomy 2q37 0
          Chromosome 20, Trisomy 0
          Chromosome 21, Uniparental Disomy of 0
          Chromosome 22, Trisomy 0
          Chromosome 22, Trisomy q11 q13 0
          Chromosome 3 Duplication Syndrome 0
          Chromosome 3, Trisomy 3p 0
          Chromosome 3, Trisomy 3p25 0
          Chromosome 3, Trisomy 3q 0
          Chromosome 3, Trisomy 3q13 2 q25 0
          Chromosome 4, Trisomy 4q 0
          Chromosome 4, Trisomy 4q21 0
          Chromosome 4, Trisomy 4q25 qter 0
          Chromosome 5, Monosomy 5q35 0
          Chromosome 5, Trisomy 5pter p13 3 0
          Chromosome 5, Trisomy 5q 0
          Chromosome 5, Uniparental Disomy 0
          Chromosome 6, Trisomy 6p 0
          Chromosome 6, Trisomy 6q 0
          Chromosome 7, Trisomy 7p 0
          Chromosome 7, Trisomy 7p13 p12 2 0
          Chromosome 7, Trisomy 7q 0
          Chromosome 7, Trisomy Mosaic 0
          Chromosome 8, Mosaic Trisomy 0
          Chromosome 8, Partial Trisomy 0
          Chromosome 8, Trisomy 1
          Chromosome 8, Trisomy 8p 0
          Chromosome 8, Trisomy 8q 0
          Chromosome 9, Partial Trisomy 9p 0
          Chromosome 9, Trisomy 0
          Chromosome 9, Trisomy 9p 0
          Chromosome 9, Trisomy 9q 0
          Chromosome 9, Trisomy 9q32 0
          Chromosome 9, Trisomy Mosaic 0
          Chromosome Xq Duplication Syndrome 0
          Distal Trisomy 10q Syndrome 0
          Down syndrome + 54
          Duplication 4p Syndrome 0
          Edwards syndrome 0
          Partial Duplication 15q Syndrome 0
          Partial Trisomy 3q Syndrome 0
          Patau syndrome 0
          Potocki-Lupski syndrome 42
          Pseudotrisomy 13 Syndrome 0
          Triple X Syndrome 0
          Trisomy 18-Like Syndrome 0
          Trisomy 20p 0
          Trisomy 22 Mosaicism Syndrome 0
          Warburton Anyane Yeboa Syndrome 0
          X Chromosome, Duplication Xq13 1 q21 1 0
          X Chromosome, Trisomy Xp3 0
          X Chromosome, Trisomy Xpter Xq13 0
          X Chromosome, Trisomy Xq25 0
          partial trisomy distal 4q 0
Path 2
Term Annotations click to browse term
  disease 15609
    Developmental Diseases 8986
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7802
        genetic disease 7293
          chromosomal disease 882
            chromosomal duplication syndrome 110
              Trisomy 98
                6q+ Syndrome, Partial 0
                Chromosome 1, Duplication 1p21 p32 0
                Chromosome 1, Trisomy 1q32 qter 0
                Chromosome 1, Trisomy 1q42 qter 0
                Chromosome 1, Uniparental Disomy 1q12 q21 0
                Chromosome 1, q42 11 q42 12 Duplication 0
                Chromosome 10, Trisomy 10p 0
                Chromosome 10, Trisomy 10pter p13 0
                Chromosome 10, Uniparental Disomy of 0
                Chromosome 10q Duplication Syndrome 0
                Chromosome 11, Partial Trisomy 11q 0
                Chromosome 11q Trisomy 0
                Chromosome 12, 12p Trisomy 0
                Chromosome 12, Trisomy 12q 0
                Chromosome 13p Duplication 0
                Chromosome 13q Trisomy 0
                Chromosome 14 Trisomy 0
                Chromosome 14, Trisomy Mosaic 0
                Chromosome 14q, Proximal Duplication 0
                Chromosome 14q, Terminal Duplication 0
                Chromosome 15, Trisomy Mosaicism 0
                Chromosome 15q, Trisomy 0
                Chromosome 16, Trisomy 0
                Chromosome 16, Trisomy 16q 0
                Chromosome 17 Trisomy 0
                Chromosome 17, Trisomy 17p 0
                Chromosome 17, Trisomy 17q22 0
                Chromosome 18, Trisomy 18p 0
                Chromosome 18, Trisomy 18q 0
                Chromosome 19, Trisomy 19q 0
                Chromosome 1q, Duplication 1q12 q21 0
                Chromosome 2, Trisomy 2p 0
                Chromosome 2, Trisomy 2p13 p21 0
                Chromosome 2, Trisomy 2pter p24 0
                Chromosome 2, Trisomy 2q 0
                Chromosome 2, Trisomy 2q37 0
                Chromosome 20, Trisomy 0
                Chromosome 21, Uniparental Disomy of 0
                Chromosome 22, Trisomy 0
                Chromosome 22, Trisomy q11 q13 0
                Chromosome 3 Duplication Syndrome 0
                Chromosome 3, Trisomy 3p 0
                Chromosome 3, Trisomy 3p25 0
                Chromosome 3, Trisomy 3q 0
                Chromosome 3, Trisomy 3q13 2 q25 0
                Chromosome 4, Trisomy 4q 0
                Chromosome 4, Trisomy 4q21 0
                Chromosome 4, Trisomy 4q25 qter 0
                Chromosome 5, Monosomy 5q35 0
                Chromosome 5, Trisomy 5pter p13 3 0
                Chromosome 5, Trisomy 5q 0
                Chromosome 5, Uniparental Disomy 0
                Chromosome 6, Trisomy 6p 0
                Chromosome 6, Trisomy 6q 0
                Chromosome 7, Trisomy 7p 0
                Chromosome 7, Trisomy 7p13 p12 2 0
                Chromosome 7, Trisomy 7q 0
                Chromosome 7, Trisomy Mosaic 0
                Chromosome 8, Mosaic Trisomy 0
                Chromosome 8, Partial Trisomy 0
                Chromosome 8, Trisomy 1
                Chromosome 8, Trisomy 8p 0
                Chromosome 8, Trisomy 8q 0
                Chromosome 9, Partial Trisomy 9p 0
                Chromosome 9, Trisomy 0
                Chromosome 9, Trisomy 9p 0
                Chromosome 9, Trisomy 9q 0
                Chromosome 9, Trisomy 9q32 0
                Chromosome 9, Trisomy Mosaic 0
                Chromosome Xq Duplication Syndrome 0
                Distal Trisomy 10q Syndrome 0
                Down syndrome + 54
                Duplication 4p Syndrome 0
                Edwards syndrome 0
                Partial Duplication 15q Syndrome 0
                Partial Trisomy 3q Syndrome 0
                Patau syndrome 0
                Potocki-Lupski syndrome 42
                Pseudotrisomy 13 Syndrome 0
                Triple X Syndrome 0
                Trisomy 18-Like Syndrome 0
                Trisomy 20p 0
                Trisomy 22 Mosaicism Syndrome 0
                Warburton Anyane Yeboa Syndrome 0
                X Chromosome, Duplication Xq13 1 q21 1 0
                X Chromosome, Trisomy Xp3 0
                X Chromosome, Trisomy Xpter Xq13 0
                X Chromosome, Trisomy Xq25 0
                partial trisomy distal 4q 0
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.