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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:Jacobsen Syndrome
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Accession:DOID:0111723 term browser browse the term
Definition:A chromosomal deletion syndrome that is characterized by growth retardation, psychomotor retardation, distinctive facial features, skeletal abnormalities, and isoimmune thrombocytopenia that has_material_basis_in deletion of terminal chromosome 11q. (DO)
Synonyms:exact_synonym: 11q deletion disorder;   11q deletion syndrome;   11q terminal deletion disorder;   11q23 deletion disorder;   Chromosome 11q Deletion Syndrome;   JBS;   Jacobsen Distal 11q Deletion Syndrome;   Jacobsen thrombocytopenia;   Paris Trousseau syndrome;   Paris Trousseau thrombocytopenia;   partial 11q monosomy syndrome
 primary_id: MESH:D054868
 alt_id: OMIM:147791
 xref: GARD:307;   NCI:C75457;   ORDO:2308


show annotations for term's descendants           Sort by:
Jacobsen Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAD8 acyl-CoA dehydrogenase family member 8 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:134,253,568...134,265,855
Ensembl chr11:134,253,548...134,265,855 		JBrowse link
G ACRV1 acrosomal vesicle protein 1 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:125,671,522...125,680,847
Ensembl chr11:125,671,522...125,680,874 		JBrowse link
G ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif 15 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:130,448,645...130,476,645
Ensembl chr11:130,448,645...130,476,645 		JBrowse link
G ADAMTS8 ADAM metallopeptidase with thrombospondin type 1 motif 8 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:130,404,923...130,428,609
Ensembl chr11:130,404,923...130,428,609 		JBrowse link
G AP001993.1 novel transcript IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:127,067,002...127,101,306
Ensembl chr11:127,021,736...127,172,363 		JBrowse link
G APLP2 amyloid beta precursor like protein 2 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:130,069,894...130,144,805
Ensembl chr11:130,068,147...130,144,811 		JBrowse link
G ARHGAP32 Rho GTPase activating protein 32 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:128,965,060...129,279,632
Ensembl chr11:128,965,060...129,279,324 		JBrowse link
G B3GAT1 beta-1,3-glucuronyltransferase 1 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:134,378,504...134,412,242
Ensembl chr11:134,378,504...134,412,242 		JBrowse link
G BARX2 BARX homeobox 2 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:129,375,233...129,452,279
Ensembl chr11:129,375,848...129,452,279 		JBrowse link
G CCDC15 coiled-coil domain containing 15 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:124,954,202...125,041,489
Ensembl chr11:124,954,121...125,041,489 		JBrowse link
G CDON cell adhesion associated, oncogene regulated IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335 		JBrowse link
G CHEK1 checkpoint kinase 1 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:125,625,136...125,681,124
Ensembl chr11:125,625,163...125,676,255 		JBrowse link
G DCPS decapping enzyme, scavenger IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:126,304,060...126,350,005
Ensembl chr11:126,304,060...126,350,005 		JBrowse link
G DDX25 DEAD-box helicase 25 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:125,903,328...125,928,843
Ensembl chr11:125,903,348...125,943,702 		JBrowse link
G EI24 EI24 autophagy associated transmembrane protein IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:125,569,477...125,584,684
Ensembl chr11:125,569,280...125,584,684 		JBrowse link
G ESAM endothelial cell adhesion molecule IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290 		JBrowse link
G ETS1 ETS proto-oncogene 1, transcription factor IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:128,458,765...128,587,558
Ensembl chr11:128,458,761...128,587,558 		JBrowse link
G FAM118B family with sequence similarity 118 member B IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:126,211,724...126,262,987
Ensembl chr11:126,211,724...126,262,984 		JBrowse link
G FEZ1 fasciculation and elongation protein zeta 1 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:125,442,881...125,496,265
Ensembl chr11:125,442,881...125,592,568 		JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor IAGP ClinVar Annotator: match by term: 11q partial monosomy syndrome
ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia		 ClinVar PMID:25741868 PMID:28255014 PMID:28492532 PMID:31064749 PMID:32581362 NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267 		JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:126,269,154...126,278,126
Ensembl chr11:126,269,024...126,278,131 		JBrowse link
G GLB1L2 galactosidase beta 1 like 2 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:134,331,988...134,376,324
Ensembl chr11:134,331,988...134,378,341 		JBrowse link
G GLB1L3 galactosidase beta 1 like 3 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:134,275,767...134,325,304
Ensembl chr11:134,274,245...134,319,564 		JBrowse link
G HEPACAM hepatic and glial cell adhesion molecule IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:124,919,205...124,936,047
Ensembl chr11:124,919,205...124,936,412 		JBrowse link
G HEPN1 hepatocellular carcinoma, down-regulated 1 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:124,919,250...124,920,677
Ensembl chr11:124,919,250...124,920,677 		JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646 		JBrowse link
G IGSF9B immunoglobulin superfamily member 9B IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:133,896,438...133,956,968
Ensembl chr11:133,896,438...133,956,968 		JBrowse link
G JAM3 junctional adhesion molecule 3 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:134,069,072...134,152,001
Ensembl chr11:134,069,071...134,152,001 		JBrowse link
G KCNJ1 potassium inwardly rectifying channel subfamily J member 1 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:128,838,020...128,867,296
Ensembl chr11:128,836,315...128,867,373 		JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163 		JBrowse link
G KCNJ5-AS1 KCNJ5 antisense RNA 1 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:128,899,565...128,906,231
Ensembl chr11:128,899,565...128,906,044 		JBrowse link
G KIRREL3 kirre like nephrin family adhesion molecule 3 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:126,423,358...127,000,870
Ensembl chr11:126,423,358...127,003,460 		JBrowse link
G LINC02714 long intergenic non-protein coding RNA 2714 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:134,735,945...134,763,811
Ensembl chr11:134,735,596...134,810,530 		JBrowse link
G LINC02743 long intergenic non-protein coding RNA 2743 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:133,783,671...133,810,376
Ensembl chr11:133,783,671...133,810,376 		JBrowse link
G LINC02873 long intergenic non-protein coding RNA 2873 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:130,672,956...130,717,352
Ensembl chr11:130,672,956...130,717,352 		JBrowse link
G MSANTD2 Myb/SANT DNA binding domain containing 2 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:124,766,498...124,800,406
Ensembl chr11:124,766,498...124,800,706 		JBrowse link
G NCAPD3 non-SMC condensin II complex subunit D3 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:134,150,113...134,225,461
Ensembl chr11:134,150,113...134,225,504 		JBrowse link
G NFRKB nuclear factor related to kappaB binding protein IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:129,863,636...129,895,578
Ensembl chr11:129,863,636...129,895,590 		JBrowse link
G NRGN neurogranin IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:124,739,942...124,747,210
Ensembl chr11:124,739,942...124,747,210 		JBrowse link
G NTM neurotrimin IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:131,370,615...132,336,822
Ensembl chr11:131,370,478...132,336,822 		JBrowse link
G OPCML opioid binding protein/cell adhesion molecule like IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:132,414,981...133,532,501
Ensembl chr11:132,414,977...133,532,501 		JBrowse link
G OR8A1 olfactory receptor family 8 subfamily A member 1 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:124,569,997...124,571,374
Ensembl chr11:124,566,660...124,582,942 		JBrowse link
G OR8B12 olfactory receptor family 8 subfamily B member 12 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:124,542,722...124,543,654
Ensembl chr11:124,539,635...124,545,333 		JBrowse link
G OR8B2 olfactory receptor family 8 subfamily B member 2 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:124,382,394...124,397,320
Ensembl chr11:124,382,394...124,384,499 		JBrowse link
G OR8B3 olfactory receptor family 8 subfamily B member 3 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:124,395,534...124,409,807
Ensembl chr11:124,395,534...124,399,024 		JBrowse link
G OR8B4 olfactory receptor family 8 subfamily B member 4 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:124,423,942...124,424,871
Ensembl chr11:124,423,942...124,424,871 		JBrowse link
G OR8B8 olfactory receptor family 8 subfamily B member 8 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:124,437,445...124,445,696
Ensembl chr11:124,437,445...124,445,696 		JBrowse link
G PANX3 pannexin 3 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:124,611,428...124,620,356
Ensembl chr11:124,611,428...124,620,356 		JBrowse link
G PATE1 prostate and testis expressed 1 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:125,746,279...125,749,867
Ensembl chr11:125,746,279...125,749,867 		JBrowse link
G PATE2 prostate and testis expressed 2 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:125,776,113...125,778,828
Ensembl chr11:125,776,113...125,778,828 		JBrowse link
G PATE3 prostate and testis expressed 3 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:125,788,127...125,791,600
Ensembl chr11:125,788,127...125,791,600 		JBrowse link
G PATE4 prostate and testis expressed 4 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:125,833,316...125,840,072
Ensembl chr11:125,833,316...125,840,072 		JBrowse link
G PKNOX2 PBX/knotted 1 homeobox 2 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:125,164,751...125,433,389
Ensembl chr11:125,164,687...125,433,389 		JBrowse link
G PRDM10 PR/SET domain 10 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:129,899,711...130,002,835
Ensembl chr11:129,899,706...130,002,835 		JBrowse link
G PUS3 pseudouridine synthase 3 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221 		JBrowse link
G ROBO3 roundabout guidance receptor 3 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:124,865,432...124,881,471
Ensembl chr11:124,865,432...124,881,471 		JBrowse link
G ROBO4 roundabout guidance receptor 4 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:124,883,691...124,897,865
Ensembl chr11:124,883,691...124,898,500 		JBrowse link
G RPUSD4 RNA pseudouridine synthase D4 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:126,202,096...126,211,650
Ensembl chr11:126,202,096...126,211,692 		JBrowse link
G SIAE sialic acid acetylesterase IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:124,633,113...124,676,303
Ensembl chr11:124,633,113...124,695,707 		JBrowse link
G SLC37A2 solute carrier family 37 member 2 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:125,063,305...125,090,516
Ensembl chr11:125,063,302...125,090,516 		JBrowse link
G SNX19 sorting nexin 19 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:130,866,250...130,916,479
Ensembl chr11:130,866,250...130,916,479 		JBrowse link
G SPA17 sperm autoantigenic protein 17 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:124,673,904...124,697,518
Ensembl chr11:124,673,844...124,697,518 		JBrowse link
G SPATA19 spermatogenesis associated 19 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:133,835,930...133,845,513
Ensembl chr11:133,840,631...133,845,538 		JBrowse link
G SRPRA SRP receptor subunit alpha IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:126,235,930...126,268,895
Ensembl chr11:126,262,938...126,269,144 		JBrowse link
G ST14 ST14 transmembrane serine protease matriptase IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:130,159,782...130,210,362
Ensembl chr11:130,159,782...130,210,362 		JBrowse link
G ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:126,355,686...126,414,638
Ensembl chr11:126,355,640...126,440,344 		JBrowse link
G STT3A STT3 oligosaccharyltransferase complex catalytic subunit A IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:125,591,769...125,623,091
Ensembl chr11:125,591,712...125,625,215 		JBrowse link
G TBRG1 transforming growth factor beta regulator 1 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:124,622,864...124,635,926
Ensembl chr11:124,622,836...124,635,926 		JBrowse link
G THYN1 thymocyte nuclear protein 1 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:134,248,282...134,253,352
Ensembl chr11:134,248,279...134,253,370 		JBrowse link
G TIRAP TIR domain containing adaptor protein IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:126,283,093...126,294,933
Ensembl chr11:126,282,497...126,298,845 		JBrowse link
G TMEM218 transmembrane protein 218 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:125,094,389...125,111,626
Ensembl chr11:125,094,389...125,111,763 		JBrowse link
G TMEM45B transmembrane protein 45B IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:129,815,848...129,860,003
Ensembl chr11:129,815,848...129,860,003 		JBrowse link
G TP53AIP1 tumor protein p53 regulated apoptosis inducing protein 1 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:128,934,731...128,942,871
Ensembl chr11:128,934,731...128,943,399 		JBrowse link
G VPS26B VPS26 retromer complex component B IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:134,224,671...134,247,788
Ensembl chr11:134,224,671...134,247,788 		JBrowse link
G VSIG2 V-set and immunoglobulin domain containing 2 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:124,747,474...124,752,255
Ensembl chr11:124,747,474...124,752,255 		JBrowse link
G ZBTB44 zinc finger and BTB domain containing 44 IAGP ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr11:130,226,677...130,314,917
Ensembl chr11:130,226,677...130,314,917 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18073
      chromosomal deletion syndrome 4768
        Jacobsen Syndrome 76
          Thrombocytopenia Paris-Trousseau Type 0
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      Hemic and Lymphatic Diseases 5702
        hematopoietic system disease 4987
          blood coagulation disease 1699
            hemorrhagic disease 1540
              blood platelet disease 627
                thrombocytopenia 423
                  Jacobsen Syndrome 76
                    Thrombocytopenia Paris-Trousseau Type 0
paths to the root