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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:Down syndrome
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Accession:DOID:14250 term browser browse the term
Definition:A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. (DO)
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;   complete trisomy 21 syndrome;   trisomy 21 syndrome;   trisomy 21, meiotic nondisjunction;   trisomy 21, mitotic nondisjunction;   trisomy G
 narrow_synonym: DCR;   DSCR;   Down syndrome, critical region;   LEUKEMIA, MEGAKARYOBLASTIC, OF DOWN SYNDROME;   TRISOMY 21 DOWN SYNDROME CHROMOSOME REGION
 related_synonym: Down syndrome, susceptibility to
 primary_id: MESH:D004314
 alt_id: OMIM:190685
 xref: GARD:10247;   ICD10CM:Q90;   ICD9CM:758.0;   NCI:C2993;   NCI:C43224;   ORDO:870
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Down syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actr1a actin related protein 1A ISO protein:decreased expression:cortex RGD PMID:11829462 RGD:13831340 NCBI chr 1:266,123,864...266,142,621
Ensembl chr 1:266,123,870...266,142,538
JBrowse link
G Arpc4 actin related protein 2/3 complex, subunit 4 ISO protein:decreased expression:cerebral cortex (human) RGD PMID:12054546 RGD:11570562 NCBI chr 4:145,330,457...145,340,985
Ensembl chr 4:145,330,457...145,340,984
JBrowse link
G Bnip1 BCL2 interacting protein 1 ISO mRNA:decreased expression:amniotic fluid cell: RGD PMID:15716609 RGD:14398459 NCBI chr10:16,677,077...16,689,321
Ensembl chr10:16,677,077...16,689,321
JBrowse link
G Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO protein:increased ubiquitination:frontal cortex (human) RGD PMID:25391381 RGD:11252150 NCBI chr10:73,507,009...73,632,742
Ensembl chr10:73,507,100...73,629,581
JBrowse link
G Calca calcitonin-related polypeptide alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16289943 NCBI chr 1:184,184,018...184,188,922
Ensembl chr 1:184,184,020...184,188,911
JBrowse link
G Ctss cathepsin S ISO RGD PMID:7717452 RGD:5686914 NCBI chr 2:197,655,780...197,679,768
Ensembl chr 2:197,655,786...197,679,458
JBrowse link
G Dbn1 drebrin 1 ISO protein:decreased expression:frontal cortex, temporal cortex: RGD PMID:12009525 RGD:10398822 NCBI chr17:9,679,511...9,693,878
Ensembl chr17:9,679,628...9,693,820
JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A treatment ISS
ISO
OMIM:190685
protein:increased expression:brain:
MouseDO PMID:23220201, PMID:18696092, PMID:28647555 RGD:14974030, RGD:14974029, RGD:14973377 NCBI chr11:34,858,339...34,958,733
Ensembl chr11:34,865,532...34,956,536
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO protein:increased expression:brain RGD PMID:9714461 RGD:5688738 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO mRNA:increased expression:brain (human) RGD PMID:10328528 RGD:13207452 NCBI chr18:25,037,668...25,068,380
Ensembl chr18:25,037,625...25,068,389
JBrowse link
G Fabp3 fatty acid binding protein 3 ISO protein:decreased expression:cerebral cortex (human) RGD PMID:15068254 RGD:1578460 NCBI chr 5:148,528,854...148,535,597
Ensembl chr 5:148,528,725...148,535,565
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO protein:increased expression:cerebellum (human) RGD PMID:9328467 RGD:5143983 NCBI chr11:31,780,477...31,805,728
Ensembl chr11:31,780,487...31,805,728
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Complete trisomy 21 syndrome OMIM
ClinVar
PMID:25741868, PMID:28492532 NCBI chr  X:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066
JBrowse link
G Gdi2 GDP dissociation inhibitor 2 ISO protein:decreased expression:brain (human) RGD PMID:11771757 RGD:13208830 NCBI chr17:70,299,177...70,325,864
Ensembl chr17:70,299,183...70,325,855
JBrowse link
G Gstm2 glutathione S-transferase mu 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11771762 NCBI chr 2:210,778,041...210,782,807
Ensembl chr 2:210,720,704...210,782,856
JBrowse link
G Hnmt histamine N-methyltransferase ISO RGD PMID:11880199 RGD:5509779 NCBI chr 3:905,111...937,038
Ensembl chr 3:904,765...937,102
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:12515899 RGD:10402838 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:increased expression:blood: RGD PMID:9469274 RGD:12743600 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 ISO protein:increased expression:hippocampus RGD PMID:22178330 RGD:6483052 NCBI chr11:35,011,007...35,262,362
Ensembl chr11:35,024,196...35,099,383
JBrowse link
G Mir125b2 microRNA 125b-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29403643 NCBI chr11:16,097,346...16,097,433 JBrowse link
G Mir155 microRNA 155 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29403643 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mir802 microRNA 802 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29403643 NCBI chr11:33,570,256...33,570,351
Ensembl chr11:33,570,256...33,570,351
JBrowse link
G Mir99a microRNA 99a ISO CTD Direct Evidence: marker/mechanism CTD PMID:29403643 NCBI chr11:16,052,153...16,052,233
Ensembl chr11:16,052,153...16,052,233
JBrowse link
G Mirlet7c1 microRNA let-7c-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29403643 NCBI chr11:16,052,873...16,052,966
Ensembl chr11:16,052,868...16,052,975
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:24519975 RGD:13204810 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility
no_association
ISO DNA:SNP:cds:1958 G>A (rs2236225)(human)
protein:increased expression:brain:
DNA:SNP:cds:1958G>A(human)
RGD PMID:25671679, PMID:15068241, PMID:22339736 RGD:12910959, RGD:12914150, RGD:12910960 NCBI chr 6:99,282,850...99,350,367
Ensembl chr 6:99,282,850...99,350,340
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs:cds:c.677C>T,c.1298A>C (human)
CTD PMID:16353284, PMID:16489479, PMID:16845273, PMID:17431899, PMID:16489479 RGD:11565177 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO ClinVar Annotator: match by term: Down syndrome, susceptibility to ClinVar PMID:9501215, PMID:10444342, PMID:10500018, PMID:10930360, PMID:12375236, PMID:12923861, PMID:15797993, PMID:15979034, PMID:16013960, PMID:18368069, PMID:22992668, PMID:25227144, PMID:25741868 NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
JBrowse link
G Myl7 myosin light chain 7 ISO RGD PMID:12083776 RGD:1580934 NCBI chr14:86,144,770...86,147,075
Ensembl chr14:86,143,862...86,147,553
JBrowse link
G Napb NSF attachment protein beta ISO protein:decreased expression:temporal cortex RGD PMID:11244216 RGD:10412652 NCBI chr 3:143,017,571...143,063,904
Ensembl chr 3:143,020,454...143,063,983
JBrowse link
G Ntf3 neurotrophin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16289943 NCBI chr 4:158,636,883...158,705,886
Ensembl chr 4:158,636,884...158,705,886
JBrowse link
G Pcnt pericentrin ISO RGD PMID:23979692, PMID:22552340 RGD:11537399, RGD:11537404 NCBI chr20:12,943,523...13,038,615
Ensembl chr20:12,944,786...13,038,431
JBrowse link
G Prdx2 peroxiredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11771762 NCBI chr19:26,084,816...26,090,095
Ensembl chr19:26,084,903...26,090,094
JBrowse link
G Prdx6 peroxiredoxin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11771762 NCBI chr13:79,077,567...79,088,113
Ensembl chr13:79,077,033...79,088,127
JBrowse link
G Rcan1 regulator of calcineurin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15906378 NCBI chr11:32,539,689...32,620,274
Ensembl chr11:32,539,683...32,550,539
JBrowse link
G Reln reelin ISO protein: increased expression: brain RGD PMID:20025970 RGD:13207521 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
JBrowse link
G Rplp0 ribosomal protein lateral stalk subunit P0 IEP protein:increased expression:brain RGD PMID:25261685 RGD:11039463 NCBI chr12:46,791,528...46,794,797
Ensembl chr12:46,791,528...46,794,797
JBrowse link
G S100b S100 calcium binding protein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:12888777 NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16845273, PMID:17431899 NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
JBrowse link
G Snap25 synaptosome associated protein 25 ISO RGD PMID:12499044 RGD:1579958 NCBI chr 3:129,697,408...129,788,417
Ensembl chr 3:129,599,353...129,788,400
JBrowse link
G Sod1 superoxide dismutase 1 ISO human gene in a mouse model
CTD Direct Evidence: marker/mechanism
CTD PMID:11181815, PMID:15464862 RGD:8655616 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Srsf4 serine and arginine rich splicing factor 4 ISO protein:increased expression:amniotic fluid (human) RGD PMID:16847874 RGD:11039402 NCBI chr 5:150,032,999...150,060,769
Ensembl chr 5:150,032,999...150,060,765
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO RGD PMID:24519975 RGD:13204810 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384
JBrowse link
G Tuba1a tubulin, alpha 1A ISO protein:decreased expression:brain: RGD PMID:21262400 RGD:12859084 NCBI chr 7:140,637,287...140,640,953
Ensembl chr 7:140,637,287...140,640,953
JBrowse link
G Vip vasoactive intestinal peptide ISO mRNA:increased expression:brain
CTD Direct Evidence: marker/mechanism
CTD PMID:16289943, PMID:19037032 RGD:5685613 NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582
JBrowse link
myeloid leukemia associated with Down Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctcf CCCTC-binding factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr19:37,600,151...37,649,674
Ensembl chr19:37,600,148...37,649,673
JBrowse link
G Dcaf7 DDB1 and CUL4 associated factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr10:94,231,585...94,254,046
Ensembl chr10:94,231,585...94,254,046
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr 4:77,284,404...77,347,011
Ensembl chr 4:77,284,404...77,347,011
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Leukemia, megakaryoblastic, of Down syndrome ClinVar PMID:12172547, PMID:14636651 RGD:10450612 NCBI chr  X:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066
JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr10:92,388,045...92,517,449
Ensembl chr10:92,389,530...92,476,109
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
G Rad21 RAD21 cohesin complex component ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr 7:91,511,755...91,538,673
Ensembl chr 7:91,511,756...91,538,673
JBrowse link
G Stag2 stromal antigen 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr  X:128,493,603...128,624,418
Ensembl chr  X:128,493,614...128,624,418
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
transient myeloproliferative syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata1 GATA binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718, PMID:14636651 RGD:10450612 NCBI chr  X:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Transient myeloproliferative disorder of Down syndrome ClinVar PMID:10068652, PMID:12200707, PMID:15156185, PMID:22012064, PMID:23817177, PMID:28492532 NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      chromosomal duplication syndrome 740
        Trisomy 104
          Down syndrome 54
            5-Hydroxytryptamine Oxygenase Regulator 0
            Beta-Amino Acids, Renal Transport of 0
            Down Syndrome Critical Region 0
            myeloid leukemia associated with Down Syndrome 9
            transient myeloproliferative syndrome 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    Down syndrome 54
                      5-Hydroxytryptamine Oxygenase Regulator 0
                      Beta-Amino Acids, Renal Transport of 0
                      Down Syndrome Critical Region 0
                      myeloid leukemia associated with Down Syndrome 9
                      transient myeloproliferative syndrome 2
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.