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ONTOLOGY REPORT - ANNOTATIONS


Term:Down syndrome
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Accession:DOID:14250 term browser browse the term
Definition:A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
Synonyms:exact_synonym: 47,XX,+21;   47,XY,+21;   Down's syndrome;   Down's syndrome - trisomy 21;   Downs Syndrome;   Mongolism;   Partial Trisomy 21 Down Syndrome;   Trisomy 21;   Trisomy 21, Meiotic Nondisjunction;   Trisomy 21, Mitotic Nondisjunction;   complete trisomy 21 syndrome;   trisomy 21 syndrome;   trisomy G
 narrow_synonym: DCR;   DOWN SYNDROME CRITICAL REGION;   DSCR;   LEUKEMIA, MEGAKARYOBLASTIC, OF DOWN SYNDROME;   TRANSIENT MYELOPROLIFERATIVE DISORDER OF DOWN SYNDROME;   TRISOMY 21 DOWN SYNDROME CHROMOSOME REGION
 related_synonym: Down syndrome, susceptibility to
 primary_id: MESH:D004314
 alt_id: OMIM:190685;   RDO:0005391
 xref: GARD:10247
For additional species annotation, visit the Alliance of Genome Resources.


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Down syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actr1a ARP1 actin related protein 1 homolog A 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 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
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
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 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 voltage-gated channel subfamily J member 6 JBrowse link 11 35,011,007 35,262,362 RGD:6483052
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 Runx1 runt-related transcription factor 1 JBrowse link 11 32,765,147 33,003,061 RGD:8554872
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
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Down syndrome 48
        5-Hydroxytryptamine Oxygenase Regulator 0
        Beta-Amino Acids, Renal Transport of 0
        Down Syndrome Critical Region 0
        Megakaryoblastic Leukemia of Down Syndrome 9
        transient myeloproliferative syndrome 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    Down syndrome 48
                      5-Hydroxytryptamine Oxygenase Regulator 0
                      Beta-Amino Acids, Renal Transport of 0
                      Down Syndrome Critical Region 0
                      Megakaryoblastic Leukemia of Down Syndrome 9
                      transient myeloproliferative syndrome 1
paths to the root