ONTOLOGY REPORT - ANNOTATIONS


Term:chromosomal deletion syndrome
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Accession:DOID:0060388 term browser browse the term
Definition:A chromosomal disease that has_material_basis_in partial deletion of chromosomes. (DO)
Synonyms:primary_id: RDO:9002045
For additional species annotation, visit the Alliance of Genome Resources.


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16p11.2 Deletion Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldoa aldolase, fructose-bisphosphate A JBrowse link 1 198,228,387 198,233,988 RGD:8554872
G Asphd1 aspartate beta-hydroxylase domain containing 1 JBrowse link 1 198,379,060 198,382,982 RGD:8554872
G Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase JBrowse link 1 198,409,186 198,413,497 RGD:8554872
G Coro1a coronin 1A JBrowse link 1 198,123,883 198,128,890 RGD:8554872
G Doc2a double C2 domain alpha JBrowse link 1 198,282,828 198,288,611 RGD:8554872
G Fam57b family with sequence similarity 57, member B JBrowse link 1 198,252,208 198,265,840 RGD:8554872
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 JBrowse link 1 198,199,032 198,209,178 RGD:8554872
G Hirip3 HIRA interacting protein 3 JBrowse link 1 198,298,138 198,301,164 RGD:8554872
G Ino80e INO80 complex subunit E JBrowse link 1 198,287,489 198,298,076 RGD:8554872
G Kctd13 potassium channel tetramerization domain containing 13 JBrowse link 1 198,360,627 198,378,935 RGD:8554872
G Kif22 kinesin family member 22 JBrowse link 1 198,461,406 198,476,430 RGD:8554872
G LOC308990 hypothetical protein LOC308990 JBrowse link 1 198,528,569 198,531,585 RGD:8554872
G Mapk3 mitogen activated protein kinase 3 JBrowse link 1 198,192,773 198,198,975 RGD:8554872
G Maz MYC associated zinc finger protein JBrowse link 1 198,456,699 198,460,126 RGD:8554872
G Mvp major vault protein JBrowse link 1 198,420,813 198,448,612 RGD:8554872
G Pagr1 Paxip1-associated glutamate-rich protein 1 JBrowse link 1 198,448,790 198,451,078 RGD:8554872
G Ppp4c protein phosphatase 4, catalytic subunit JBrowse link 1 198,219,012 198,225,775 RGD:8554872
G Prrt2 proline-rich transmembrane protein 2 JBrowse link 1 198,451,042 198,454,998 RGD:8554872
G Qprt quinolinate phosphoribosyltransferase JBrowse link 1 198,544,262 198,559,556 RGD:8554872
G RGD1563217 similar to RIKEN cDNA 4930451I11 JBrowse link 1 198,260,711 198,268,056 RGD:8554872
G Sez6l2 seizure related 6 homolog like 2 JBrowse link 1 198,383,201 198,403,544 RGD:8554872
G Spn sialophorin JBrowse link 1 198,572,999 198,585,664 RGD:8554872
G Taok2 TAO kinase 2 JBrowse link 1 198,301,789 198,354,601 RGD:8554872
G Tbx6 T-box 6 JBrowse link 1 198,214,797 198,218,706 RGD:8554872
G Tmem219 transmembrane protein 219 JBrowse link 1 198,322,276 198,360,552 RGD:8554872
G Ypel3 yippee-like 3 JBrowse link 1 198,210,525 198,213,821 RGD:8554872
G Zg16 zymogen granule protein 16 JBrowse link 1 198,483,800 198,486,157 RGD:8554872
22q11 Deletion Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf8 fibroblast growth factor 8 JBrowse link 1 265,492,949 265,498,965 RGD:11554173
G Six1 SIX homeobox 1 JBrowse link 6 95,929,060 95,934,296 RGD:11561941
chromosome 10q23 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmpr1a bone morphogenetic protein receptor type 1A JBrowse link 16 10,758,278 10,852,170 RGD:13592920
chromosome 13q14 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acod1 aconitate decarboxylase 1 JBrowse link 15 93,612,968 93,622,322 RGD:8554872
G Alg11 ALG11, alpha-1,2-mannosyltransferase JBrowse link 16 74,854,007 74,866,096 RGD:8554872
G Arl11 ADP-ribosylation factor like GTPase 11 JBrowse link 15 41,639,985 41,645,685 RGD:8554872
G Atp7b ATPase copper transporting beta JBrowse link 16 74,865,516 74,944,935 RGD:8554872
G Bora bora, aurora kinase A activator JBrowse link 15 83,442,217 83,463,737 RGD:8554872
G Cab39l calcium binding protein 39-like JBrowse link 15 39,745,124 39,849,022 RGD:8554872
G Ccdc70 coiled-coil domain containing 70 JBrowse link 16 74,958,897 74,963,925 RGD:8554872
G Cdadc1 cytidine and dCMP deaminase domain containing 1 JBrowse link 15 39,865,094 39,894,122 RGD:8554872
G Ckap2 cytoskeleton associated protein 2 JBrowse link 16 74,752,655 74,779,184 RGD:8554872
G Cln5 CLN5, intracellular trafficking protein JBrowse link 15 93,634,815 93,644,146 RGD:8554872
G Cnmd chondromodulin JBrowse link 15 61,923,291 61,947,840 RGD:8554872
G Commd6 COMM domain containing 6 JBrowse link 15 86,136,096 86,142,672 RGD:8554872
G Cysltr2 cysteinyl leukotriene receptor 2 JBrowse link 15 54,903,290 54,941,742 RGD:8554872
G Dach1 dachshund family transcription factor 1 JBrowse link 15 82,095,003 82,482,272 RGD:8554872
G Diaph3 diaphanous-related formin 3 JBrowse link 15 69,928,507 70,400,077 RGD:8554872
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease JBrowse link 15 83,466,330 83,494,107 RGD:8554872
G Dleu7 deleted in lymphocytic leukemia, 7 JBrowse link 15 45,360,505 45,378,840 RGD:8554872
G Ebpl EBP like JBrowse link 15 41,668,119 41,691,518 RGD:8554872
G Ednrb endothelin receptor type B JBrowse link 15 88,004,775 88,036,354 RGD:8554872
G Fam124a family with sequence similarity 124 member A JBrowse link 15 45,711,994 45,780,395 RGD:8554872
G Fbxl3 F-box and leucine-rich repeat protein 3 JBrowse link 15 93,647,307 93,667,395 RGD:8554872
G Fndc3a fibronectin type III domain containing 3a JBrowse link 15 54,378,865 54,582,954 RGD:8554872
G Ints6 integrator complex subunit 6 JBrowse link 15 45,844,050 45,929,996 RGD:8554872
G Itm2b integral membrane protein 2B JBrowse link 15 55,254,703 55,277,713 RGD:8554872
G Kcnrg potassium channel regulator JBrowse link 15 41,937,880 41,942,205 RGD:8554872
G Kctd12 potassium channel tetramerization domain containing 12 JBrowse link 15 87,384,632 87,390,627 RGD:8554872
G Klf12 Kruppel-like factor 12 JBrowse link 15 84,316,986 84,748,549 RGD:8554872
G Klf5 Kruppel-like factor 5 JBrowse link 15 83,703,796 83,722,921 RGD:8554872
G Klhl1 kelch-like family member 1 JBrowse link 15 80,270,846 80,714,176 RGD:8554872
G Kpna3 karyopherin subunit alpha 3 JBrowse link 15 41,696,356 41,770,112 RGD:8554872
G Lmo7 LIM domain 7 JBrowse link 15 86,242,911 86,458,512 RGD:8554872
G Lpar6 lysophosphatidic acid receptor 6 JBrowse link 15 55,126,953 55,128,762 RGD:8554872
G Med4 mediator complex subunit 4 JBrowse link 15 55,406,543 55,416,816 RGD:8554872
G Mycbp2 MYC binding protein 2 JBrowse link 15
15
87,405,472
93,678,062
87,450,812
93,901,556
RGD:8554872
G Mzt1 mitotic spindle organizing protein 1 JBrowse link 15 83,429,437 83,442,118 RGD:8554872
G Ndfip2 Nedd4 family interacting protein 2 JBrowse link 15 89,407,426 89,458,983 RGD:8554872
G Nek3 NIMA-related kinase 3 JBrowse link 16 74,781,371 74,806,567 RGD:8554872
G Nek5 NIMA-related kinase 5 JBrowse link 16 74,809,513 74,851,895 RGD:8554872
G Nudt15 nudix hydrolase 15 JBrowse link 15 55,417,774 55,456,698 RGD:8554872
G Olfm4 olfactomedin 4 JBrowse link 15 62,384,263 62,429,450 RGD:8554872
G Pcdh17 protocadherin 17 JBrowse link 15 67,555,835 67,647,990 RGD:8554872
G Pcdh20 protocadherin 20 JBrowse link 15 71,772,777 71,779,033 RGD:8554872
G Pcdh8 protocadherin 8 JBrowse link 15 62,196,469 62,201,498 RGD:8554872
G Pcdh9 protocadherin 9 JBrowse link 15 76,787,108 77,738,668 RGD:8554872
G Phf11 PHD finger protein 11 JBrowse link 15 38,692,817 39,683,417 RGD:8554872
G Pibf1 progesterone immunomodulatory binding factor 1 JBrowse link 15 83,494,110 83,663,202 RGD:8554872
G Pou4f1 POU class 4 homeobox 1 JBrowse link 15 88,618,255 88,622,712 RGD:8554872
G Prr20e proline rich 20E JBrowse link 4 121,040,810 121,053,910 RGD:8554872
G Rb1 RB transcriptional corepressor 1 JBrowse link 15 55,081,582 55,209,060 RGD:8554872
G Rbm26 RNA binding motif protein 26 JBrowse link 15 89,262,683 89,339,323 RGD:8554872
G Rcbtb1 RCC1 and BTB domain containing protein 1 JBrowse link 15 39,622,572 39,665,335 RGD:8554872
G Rcbtb2 RCC1 and BTB domain containing protein 2 JBrowse link 15 55,029,388 55,074,728 RGD:8554872
G Rnaseh2b ribonuclease H2, subunit B JBrowse link 15 45,422,010 45,472,792 RGD:8554872
G Rnf219 ring finger protein 219 JBrowse link 15 88,632,089 88,670,325 RGD:8554872
G Scel sciellin JBrowse link 15 87,689,190 87,820,731 RGD:8554872
G Serpine3 serpin family E member 3 JBrowse link 15 45,827,983 45,855,952 RGD:8554872
G Setdb2 SET domain bifurcated histone lysine methyltransferase 2 JBrowse link 15 38,699,135 39,745,035 RGD:8554872
G Slain1 SLAIN motif family, member 1 JBrowse link 15 87,862,832 87,906,472 RGD:8554872
G Slitrk1 SLIT and NTRK-like family, member 1 JBrowse link 15 93,303,382 93,307,420 RGD:8554872
G Slitrk6 SLIT and NTRK-like family, member 6 JBrowse link 15 95,507,632 95,514,259 RGD:8554872
G Spry2 sprouty RTK signaling antagonist 2 JBrowse link 15 90,172,769 90,177,823 RGD:8554872
G Spryd7 SPRY domain containing 7 JBrowse link 15 41,871,144 41,890,879 RGD:8554872
G Sucla2 succinate-CoA ligase ADP-forming beta subunit JBrowse link 15 55,461,695 55,516,954 RGD:8554872
G Sugt1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone JBrowse link 15 61,873,158 61,913,983 RGD:8554872
G Tbc1d4 TBC1 domain family, member 4 JBrowse link 15 85,927,978 86,105,829 RGD:8554872
G Tdrd3 tudor domain containing 3 JBrowse link 15 70,732,164 70,864,855 RGD:8554872
G Thsd1 thrombospondin type 1 domain containing 1 JBrowse link 16 74,680,621 74,712,368 RGD:8554872
G Trim13 tripartite motif-containing 13 JBrowse link 15 41,897,191 41,936,545 RGD:8554872
G Uchl3 ubiquitin C-terminal hydrolase L3 JBrowse link 15 86,153,624 86,198,127 RGD:8554872
G Vps36 vacuolar protein sorting 36 homolog JBrowse link 16 74,719,642 74,743,921 RGD:8554872
G Wdfy2 WD repeat and FYVE domain containing 2 JBrowse link 15 46,008,613 46,134,319 RGD:8554872
chromosome 15q11.2 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Auts2 activator of transcription and developmental regulator AUTS2 JBrowse link 12 27,155,362 28,252,752 RGD:8554872
chromosome 15q13.3 microdeletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit JBrowse link 1 123,897,341 124,039,263 RGD:8554872
RGD:11554173
G Fan1 FANCD2 and FANCI associated nuclease 1 JBrowse link 1 125,182,117 125,209,772 RGD:8554872
G Klf13 Kruppel-like factor 13 JBrowse link 1 124,772,596 124,803,363 RGD:8554872
RGD:11554173
G Mir211 microRNA 211 JBrowse link 1 125,042,119 125,042,224 RGD:8554872
G Mtmr10 myotubularin related protein 10 JBrowse link 1 125,124,743 125,175,857 RGD:8554872
G Otud7a OTU deubiquitinase 7A JBrowse link 1 124,311,873 124,655,437 RGD:8554872
RGD:13592920
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 JBrowse link 1 124,983,391 125,101,759 RGD:8554872
chromosome 15q24 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Commd4 COMM domain containing 4 JBrowse link 8 61,833,340 61,836,872 RGD:8554872
G Cspg4 chondroitin sulfate proteoglycan 4 JBrowse link 8 61,532,465 61,567,510 RGD:8554872
G Imp3 IMP U3 small nucleolar ribonucleoprotein 3 JBrowse link 8 61,607,021 61,607,909 RGD:8554872
G Man2c1 mannosidase, alpha, class 2C, member 1 JBrowse link 8 61,805,697 61,816,800 RGD:8554872
G Neil1 nei-like DNA glycosylase 1 JBrowse link 8 61,817,258 61,824,023 RGD:8554872
G Odf3l1 outer dense fiber of sperm tails 3-like 1 JBrowse link 8 61,516,249 61,542,946 RGD:8554872
G Ptpn9 protein tyrosine phosphatase, non-receptor type 9 JBrowse link 8 61,658,851 61,739,458 RGD:8554872
G Sin3a SIN3 transcription regulator family member A JBrowse link 8 61,748,590 61,803,314 RGD:8554872
RGD:7240710
G Snupn snurportin 1 JBrowse link 8 61,614,798 61,654,809 RGD:8554872
G Snx33 sorting nexin 33 JBrowse link 8 61,584,656 61,596,055 RGD:8554872
Chromosome 17 Deletion term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kansl1 KAT8 regulatory NSL complex subunit 1 JBrowse link 10 92,388,045 92,517,449 RGD:11554173
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:11554173
chromosome 17q11.2 deletion syndrome, 1.4Mb term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf135 ring finger protein 135 JBrowse link 10 67,531,989 67,551,237 RGD:8554872
chromosome 17q12 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aatf apoptosis antagonizing transcription factor JBrowse link 10 71,744,648 71,837,851 RGD:8554872
G Acaca acetyl-CoA carboxylase alpha JBrowse link 10 71,519,392 71,719,910 RGD:8554872
G Ccl3 C-C motif chemokine ligand 3 JBrowse link 10 70,869,516 70,871,066 RGD:8554872
G Ccl4 C-C motif chemokine ligand 4 JBrowse link 10 70,870,926 70,886,357 RGD:8554872
G Ddx52 DExD-box helicase 52 JBrowse link 10 71,253,667 71,276,397 RGD:8554872
G Dhrs11 dehydrogenase/reductase 11 JBrowse link 10 72,144,042 72,153,496 RGD:8554872
G Dusp14 dual specificity phosphatase 14 JBrowse link 10 71,363,688 71,383,602 RGD:8554872
G Ggnbp2 gametogenetin binding protein 2 JBrowse link 10 72,156,729 72,188,834 RGD:8554872
G Hnf1b HNF1 homeobox B JBrowse link 10 71,159,863 71,218,902 RGD:8554872
G Lhx1 LIM homeobox 1 JBrowse link 10 71,843,991 71,849,293 RGD:8554872
G LOC102552988 uncharacterized LOC102552988 JBrowse link 10 71,462,168 71,493,312 RGD:8554872
G Mrm1 mitochondrial rRNA methyltransferase 1 JBrowse link 10 72,136,241 72,143,075 RGD:8554872
G Mrpl45 mitochondrial ribosomal protein L45 JBrowse link 10 85,257,876 85,269,806 RGD:8554872
G Myo19 myosin XIX JBrowse link 10 72,198,475 72,227,892 RGD:8554872
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W JBrowse link 10 72,194,774 72,198,415 RGD:8554872
G Synrg synergin, gamma JBrowse link 10 71,278,698 71,357,791 RGD:8554872
G Tada2a transcriptional adaptor 2A JBrowse link 10 71,393,701 71,441,435 RGD:8554872
G Znhit3 zinc finger, HIT-type containing 3 JBrowse link 10 72,227,710 72,235,932 RGD:8554872
chromosome 1p32-p31 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nfia nuclear factor I/A JBrowse link 5 116,421,895 116,750,381 RGD:8554872
RGD:7240710
chromosome 1p36 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casz1 castor zinc finger 1 JBrowse link 5 165,625,119 165,777,053 RGD:13592920
G Kcnab2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 JBrowse link 5 169,570,327 169,658,875 RGD:13592920
chromosome 1q21.1 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acp6 acid phosphatase 6, lysophosphatidic JBrowse link 2 199,284,177 199,305,793 RGD:8554872
G Bcl9 BCL9, transcription coactivator JBrowse link 2 199,334,644 199,420,083 RGD:8554872
G Chd1l chromodomain helicase DNA binding protein 1-like JBrowse link 2 199,714,044 199,792,270 RGD:8554872
G Fmo5 flavin containing monooxygenase 5 JBrowse link 2 199,796,870 199,823,927 RGD:8554872
G Gja5 gap junction protein, alpha 5 JBrowse link 2 199,162,745 199,184,942 RGD:8554872
RGD:11554173
G Gja8 gap junction protein, alpha 8 JBrowse link 2 199,050,854 199,052,470 RGD:8554872
RGD:11554173
G Gpr89b G protein-coupled receptor 89B JBrowse link 2 198,999,945 199,038,702 RGD:8554872
G Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 JBrowse link 2 199,831,990 199,847,623 RGD:8554872
chromosome 1q41-q42 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp53bp2 tumor protein p53 binding protein, 2 JBrowse link 13 100,817,206 100,873,837 RGD:13592920
chromosome 2q32-q33 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Satb2 SATB homeobox 2 JBrowse link 9 63,456,877 63,642,193 RGD:7240710
RGD:8554872
chromosome 9p deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:13592920
Cri-du-Chat syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:11554173
Deafness, with Smith-Magenis Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo15a myosin XVA JBrowse link 10 46,840,098 46,897,362 RGD:8554872
DiGeorge syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh1a2 aldehyde dehydrogenase 1 family, member A2 JBrowse link 8 77,640,234 77,719,488 RGD:734550
RGD:13592920
G Arvcf ARVCF, delta catenin family member JBrowse link 11 86,736,125 86,793,795 RGD:1578806
RGD:8554872
G Cdc45 cell division cycle 45 JBrowse link 11 86,328,785 86,354,099 RGD:8554872
G Chrd chordin JBrowse link 11 83,858,503 83,867,543 RGD:13592920
G Cldn5 claudin 5 JBrowse link 11 86,356,292 86,357,718 RGD:8554872
G Comt catechol-O-methyltransferase JBrowse link 11 86,715,981 86,735,630 RGD:11554173
RGD:8554872
G Crkl CRK like proto-oncogene, adaptor protein JBrowse link 11 87,338,606 87,356,644 RGD:11554173
G Dgcr2 DiGeorge syndrome critical region gene 2 JBrowse link 11 87,242,441 87,290,806 RGD:11554173
RGD:8554872
G Dgcr6 DiGeorge syndrome critical region gene 6 JBrowse link 11 87,076,205 87,081,306 RGD:11554173
G Dgcr8 DGCR8 microprocessor complex subunit JBrowse link 11 86,852,682 86,885,233 RGD:11554173
G Dicer1 dicer 1 ribonuclease III JBrowse link 6 128,388,084 128,453,234 RGD:13592920
G Dock1 dedicator of cyto-kinesis 1 JBrowse link 1 206,900,617 207,414,852 RGD:13592920
G Dvl1 dishevelled segment polarity protein 1 JBrowse link 5 173,295,948 173,308,014 RGD:1580898
G Ess2 ess-2 splicing factor homolog JBrowse link 11 87,224,371 87,234,329 RGD:11554173
RGD:8554872
G Fgf8 fibroblast growth factor 8 JBrowse link 1 265,492,949 265,498,965 RGD:11554173
G Foxn1 forkhead box N1 JBrowse link 10 65,621,142 65,634,666 RGD:13592920
G Gnb1l G protein subunit beta 1 like JBrowse link 11 86,575,229 86,655,614 RGD:8554872
G Gp1bb glycoprotein Ib platelet subunit beta JBrowse link 11 86,520,992 86,522,169 RGD:8554872
G Gsc2 goosecoid homeobox 2 JBrowse link 11 87,220,618 87,222,606 RGD:8554872
G Hira histone cell cycle regulator JBrowse link 11 86,168,196 86,276,430 RGD:8554872
G Hoxa3 homeobox A3 JBrowse link 4 82,137,802 82,181,836 RGD:13592920
G Kat6a lysine acetyltransferase 6A JBrowse link 16 73,942,669 74,020,750 RGD:9590333
RGD:13592920
G LOC102548901 protein Bop-like JBrowse link 12 6,230,524 6,231,398 RGD:8554872
G LOC498122 similar to CG15908-PA JBrowse link 11 86,299,210 86,303,453 RGD:8554872
G Mrpl40 mitochondrial ribosomal protein L40 JBrowse link 11 86,276,616 86,282,452 RGD:8554872
G Ndst1 N-deacetylase and N-sulfotransferase 1 JBrowse link 18 55,951,497 56,014,107 RGD:13592920
G Plxnd1 plexin D1 JBrowse link 4 147,854,309 147,894,170 RGD:13592920
G Prodh1 proline dehydrogenase 1 JBrowse link 11 87,058,478 87,075,785 RGD:8554872
G Sept5 septin 5 JBrowse link 11 86,516,377 86,522,169 RGD:8554872
G Slc25a1 solute carrier family 25 member 1 JBrowse link 11 87,204,248 87,207,265 RGD:8554872
G Tbx1 T-box 1 JBrowse link 11 86,552,022 86,561,647 RGD:7240710
RGD:8554872
RGD:11554173
G Tgfbr2 transforming growth factor, beta receptor 2 JBrowse link 8 124,310,288 124,399,345 RGD:13592920
G Tssk2 testis-specific serine kinase 2 JBrowse link 11 87,235,058 87,236,413 RGD:8554872
G Txnrd2 thioredoxin reductase 2 JBrowse link 11 86,667,994 86,716,063 RGD:8554872
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 JBrowse link 11 86,304,836 86,328,478 RGD:1580803
RGD:8554872
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:13592920
G Zfp366 zinc finger protein 366 JBrowse link 2 29,410,169 29,498,661 RGD:13592920
hypoparathyroidism-deafness-renal disease syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acbd7 acyl-CoA binding domain containing 7 JBrowse link 17 78,904,549 78,913,372 RGD:8554872
G Akr1c1 aldo-keto reductase family 1, member C1 JBrowse link 17 69,441,253 69,460,334 RGD:8554872
G Akr1c2 aldo-keto reductase family 1, member C2 JBrowse link 17 69,388,337 69,435,160 RGD:8554872
G Akr1c3 aldo-keto reductase family 1, member C3 JBrowse link 17 69,761,126 69,778,021 RGD:8554872
G Akr1e2 aldo-keto reductase family 1, member E2 JBrowse link 17 69,365,437 69,379,944 RGD:8554872
G Ankrd16 ankyrin repeat domain 16 JBrowse link 17 70,384,883 70,398,089 RGD:8554872
G Arl5b ADP-ribosylation factor like GTPase 5B JBrowse link 17 82,065,893 82,092,693 RGD:8554872
G Asb13 ankyrin repeat and SOCS box-containing 13 JBrowse link 17 70,215,401 70,234,103 RGD:8554872
G Atp5f1c ATP synthase F1 subunit gamma JBrowse link 17 72,209,321 72,231,562 RGD:8554872
G Bend7 BEN domain containing 7 JBrowse link 17 77,448,430 77,527,888 RGD:8554872
G C1ql3 complement C1q like 3 JBrowse link 17 80,314,186 80,320,681 RGD:8554872
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 JBrowse link 17 81,673,862 82,019,219 RGD:8554872
G Calml3 calmodulin-like 3 JBrowse link 17 70,070,458 70,073,697 RGD:8554872
G Calml5 calmodulin-like 5 JBrowse link 17 70,044,956 70,045,886 RGD:8554872
G Camk1d calcium/calmodulin-dependent protein kinase ID JBrowse link 17 76,532,611 76,938,956 RGD:8554872
G Ccdc3 coiled-coil domain containing 3 JBrowse link 17 76,991,722 77,093,515 RGD:8554872
G Cdc123 cell division cycle 123 JBrowse link 17 76,410,629 76,454,275 RGD:8554872
G Cdnf cerebral dopamine neurotrophic factor JBrowse link 17 78,721,230 78,735,324 RGD:8554872
G Celf2 CUGBP, Elav-like family member 2 JBrowse link 17 75,259,269 75,660,154 RGD:8554872
G Cubn cubilin JBrowse link 17 80,584,921 80,807,181 RGD:8554872
G Dclre1c DNA cross-link repair 1C JBrowse link 17 78,782,512 78,812,140 RGD:8554872
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 JBrowse link 17 76,306,585 76,358,058 RGD:8554872
G Echdc3 enoyl CoA hydratase domain containing 3 JBrowse link 17 76,002,304 76,022,813 RGD:8554872
G Fam107b family with sequence similarity 107, member B JBrowse link 17 78,489,667 78,689,933 RGD:8554872
G Fam171a1 family with sequence similarity 171, member A1 JBrowse link 17 79,030,150 79,149,480 RGD:8554872
G Fbh1 F-box DNA helicase 1 JBrowse link 17 70,399,093 70,437,151 RGD:8554872
G Frmd4a FERM domain containing 4A JBrowse link 17 77,642,302 77,918,210 RGD:8554872
G Gata3 GATA binding protein 3 JBrowse link 17 72,419,752 72,452,043 RGD:7240710
RGD:8554872
RGD:11554173
G Gdi2 GDP dissociation inhibitor 2 JBrowse link 17 70,299,177 70,325,864 RGD:8554872
G Hacd1 3-hydroxyacyl-CoA dehydratase 1 JBrowse link 17 81,173,238 81,196,012 RGD:8554872
G Hspa14 heat shock protein family A (Hsp70) member 14 JBrowse link 17 78,735,630 78,756,412 RGD:8554872
G Il15ra interleukin 15 receptor subunit alpha JBrowse link 17 70,451,861 70,481,838 RGD:8554872
G Il2ra interleukin 2 receptor subunit alpha JBrowse link 17 70,500,672 70,547,929 RGD:8554872
G Itga8 integrin subunit alpha 8 JBrowse link 17 79,321,893 79,676,927 RGD:8554872
G Itih2 inter-alpha-trypsin inhibitor heavy chain 2 JBrowse link 17 72,160,734 72,197,248 RGD:8554872
G Kin Kin17 DNA and RNA binding protein JBrowse link 17 72,198,882 72,216,780 RGD:8554872
G Mcm10 minichromosome maintenance 10 replication initiation factor JBrowse link 17 77,224,218 77,245,486 RGD:8554872
G Meig1 meiosis/spermiogenesis associated 1 JBrowse link 17 78,813,656 78,829,411 RGD:8554872
G Mindy3 MINDY lysine 48 deubiquitinase 3 JBrowse link 17 79,720,534 79,798,470 RGD:8554872
G Net1 neuroepithelial cell transforming 1 JBrowse link 17 69,991,786 70,020,977 RGD:8554872
G Nmt2 N-myristoyltransferase 2 JBrowse link 17 78,919,235 78,966,013 RGD:8554872
G Nsun6 NOP2/Sun RNA methyltransferase 6 JBrowse link 17 82,020,316 82,060,533 RGD:8554872
G Nudt5 nudix hydrolase 5 JBrowse link 17 76,387,027 76,410,309 RGD:8554872
G Olah oleoyl-ACP hydrolase JBrowse link 17 78,878,673 78,903,919 RGD:8554872
G Optn optineurin JBrowse link 17 77,167,700 77,218,374 RGD:8554872
G Pfkfb3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 JBrowse link 17 70,632,778 70,713,736 RGD:8554872
G Phyh phytanoyl-CoA 2-hydroxylase JBrowse link 17 77,287,580 77,304,482 RGD:8554872
G Prkcq protein kinase C, theta JBrowse link 17 70,971,915 71,105,286 RGD:8554872
G Proser2 proline and serine rich 2 JBrowse link 17 76,079,641 76,140,428 RGD:8554872
G Prpf18 pre-mRNA processing factor 18 JBrowse link 17 77,601,914 77,632,507 RGD:8554872
G Pter phosphotriesterase related JBrowse link 17 80,250,444 80,311,987 RGD:8554872
G Rbm17 RNA binding motif protein 17 JBrowse link 17 70,586,345 70,603,289 RGD:8554872
G Rpp38 ribonuclease P/MRP subunit p38 JBrowse link 17 78,915,450 78,919,144 RGD:8554872
G Rsu1 Ras suppressor protein 1 JBrowse link 17 80,388,477 80,577,338 RGD:8554872
G Sec61a2 Sec61 translocon alpha 2 subunit JBrowse link 17 76,358,947 76,385,860 RGD:8554872
G Sephs1 selenophosphate synthetase 1 JBrowse link 17 77,312,562 77,340,934 RGD:8554872
G Sfmbt2 Scm-like with four mbt domains 2 JBrowse link 17 71,719,012 71,904,303 RGD:8554872
G Slc39a12 solute carrier family 39 member 12 JBrowse link 17 81,455,731 81,541,742 RGD:8554872
G St8sia6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 JBrowse link 17 80,960,785 81,002,830 RGD:8554872
G Stam signal transducing adaptor molecule JBrowse link 17 81,209,795 81,256,111 RGD:8554872
G Suv39h2 suppressor of variegation 3-9 homolog 2 JBrowse link 17 78,762,897 78,782,016 RGD:8554872
G Taf3 TATA-box binding protein associated factor 3 JBrowse link 17 72,240,785 72,393,448 RGD:8554872
G Tasor2 transcription activation suppressor family member 2 JBrowse link 17 70,245,672 70,299,056 RGD:8554872
G Trdmt1 tRNA aspartic acid methyltransferase 1 JBrowse link 17 80,824,652 80,859,585 RGD:8554872
G Tubal3 tubulin, alpha-like 3 JBrowse link 17 69,974,272 69,982,957 RGD:8554872
G Ucma upper zone of growth plate and cartilage matrix associated JBrowse link 17 77,252,099 77,262,301 RGD:8554872
G Ucn3 urocortin 3 JBrowse link 17 69,959,879 69,966,532 RGD:8554872
G Upf2 UPF2, regulator of nonsense mediated mRNA decay JBrowse link 17 76,176,379 76,287,246 RGD:8554872
G Usp6nl USP6 N-terminal like JBrowse link 17 75,759,428 75,887,108 RGD:8554872
G Vim vimentin JBrowse link 17 80,882,715 80,891,200 RGD:8554872
Koolen de Vries syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kansl1 KAT8 regulatory NSL complex subunit 1 JBrowse link 10 92,388,045 92,517,449 RGD:8554872
RGD:7240710
Miller-Dieker lissencephaly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dph1 diphthamide biosynthesis 1 JBrowse link 10 62,019,379 62,032,384 RGD:13592920
G Hic1 HIC ZBTB transcriptional repressor 1 JBrowse link 10 62,007,150 62,010,774 RGD:13592920
G Mnt MAX network transcriptional repressor JBrowse link 10 61,683,776 61,700,504 RGD:13592920
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 JBrowse link 10 61,456,144 61,577,412 RGD:13592920
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon JBrowse link 10 63,884,338 63,921,709 RGD:13592920
Phelan-McDermid syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ins2 insulin 2 JBrowse link 1 215,856,967 215,858,034 RGD:11554173
G Shank3 SH3 and multiple ankyrin repeat domains 3 JBrowse link 7 130,474,278 130,534,679 RGD:7240710
RGD:8554872
RGD:11554173
Smith-Magenis syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:8554872
G Cc2d1a coiled-coil and C2 domain containing 1A JBrowse link 19 25,246,912 25,261,965 RGD:8554872
G Gldc glycine decarboxylase JBrowse link 1 248,295,140 248,377,122 RGD:8554872
G Jakmip1 janus kinase and microtubule interacting protein 1 JBrowse link 14 78,403,448 78,523,108 RGD:8554872
G Kdm5c lysine demethylase 5C JBrowse link X 22,302,664 22,349,298 RGD:8554872
G Kmt2d lysine methyltransferase 2D JBrowse link 7 140,507,137 140,542,479 RGD:8554872
G Map2k2 mitogen activated protein kinase kinase 2 JBrowse link 7 11,458,971 11,478,520 RGD:8554872
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:8554872
G Pogz pogo transposable element derived with ZNF domain JBrowse link 2 195,995,322 196,041,500 RGD:8554872
G Rai1 retinoic acid induced 1 JBrowse link 10 46,511,271 46,571,591 RGD:7240710
RGD:8554872
RGD:11554173
G Sms spermine synthase JBrowse link X 40,363,646 40,415,110 RGD:8554872
G Srebf1 sterol regulatory element binding transcription factor 1 JBrowse link 10 46,570,996 46,593,021 RGD:8554872
G Tom1l2 target of myb1 like 2 membrane trafficking protein JBrowse link 10 46,599,392 46,720,921 RGD:8554872
G Zeb2 zinc finger E-box binding homeobox 2 JBrowse link 3 29,857,289 29,985,932 RGD:8554872
Takao VCF Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbx1 T-box 1 JBrowse link 11 86,552,022 86,561,647 RGD:8554872
thrombocytopenia-absent radius syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankrd34a ankyrin repeat domain 34A JBrowse link 2 198,720,277 198,725,155 RGD:8554872
G Ankrd35 ankyrin repeat domain 35 JBrowse link 2 198,797,136 198,817,144 RGD:8554872
G Hjv hemojuvelin BMP co-receptor JBrowse link 2 198,655,437 198,659,318 RGD:8554872
G Itga10 integrin subunit alpha 10 JBrowse link 2 198,772,937 198,792,253 RGD:8554872
G Lix1l limb and CNS expressed 1 like JBrowse link 2 198,726,110 198,751,987 RGD:8554872
G Nudt17 nudix hydrolase 17 JBrowse link 2 198,831,546 198,836,191 RGD:8554872
G Pex11b peroxisomal biogenesis factor 11 beta JBrowse link 2 198,762,138 198,771,040 RGD:8554872
G Pias3 protein inhibitor of activated STAT, 3 JBrowse link 2 198,821,377 198,831,533 RGD:8554872
G Polr3c RNA polymerase III subunit C JBrowse link 2 198,836,282 198,852,368 RGD:8554872
G Polr3gl RNA polymerase III subunit G like JBrowse link 2 198,698,044 198,719,609 RGD:8554872
G Rbm8a RNA binding motif protein 8A JBrowse link 2 198,755,261 198,758,028 RGD:7240710
RGD:8554872
RGD:11554173
G Txnip thioredoxin interacting protein JBrowse link 2 198,683,168 198,686,971 RGD:8554872
velocardiofacial syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrd chordin JBrowse link 11 83,858,503 83,867,543 RGD:13592920
G Crkl CRK like proto-oncogene, adaptor protein JBrowse link 11 87,338,606 87,356,644 RGD:13592920
G Dgcr2 DiGeorge syndrome critical region gene 2 JBrowse link 11 87,242,441 87,290,806 RGD:13592920
G Dgcr6 DiGeorge syndrome critical region gene 6 JBrowse link 11 87,076,205 87,081,306 RGD:13592920
G Dgcr8 DGCR8 microprocessor complex subunit JBrowse link 11 86,852,682 86,885,233 RGD:13592920
G Ednra endothelin receptor type A JBrowse link 19 33,928,356 33,991,703 RGD:13592920
G Ess2 ess-2 splicing factor homolog JBrowse link 11 87,224,371 87,234,329 RGD:13592920
G Mapk1 mitogen activated protein kinase 1 JBrowse link 11 88,203,863 88,273,301 RGD:13592920
G Mylk2 myosin light chain kinase 2 JBrowse link 3 148,386,185 148,397,851 RGD:8554872
G Prickle1 prickle planar cell polarity protein 1 JBrowse link 7 134,702,964 134,799,437 RGD:13592920
G Tbx1 T-box 1 JBrowse link 11 86,552,022 86,561,647 RGD:8554872
RGD:7240710
G Trappc10 trafficking protein particle complex 10 JBrowse link 20 11,168,298 11,228,634 RGD:13592920
WAGR syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8554872
RGD:11554173
G Wt1 WT1 transcription factor JBrowse link 3 95,133,221 95,180,574 RGD:1331525
RGD:8554872
RGD:11554173
Williams-Beuren syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Baz1b bromodomain adjacent to zinc finger domain, 1B JBrowse link 12 24,478,882 24,536,851 RGD:11554173
G Clip2 CAP-GLY domain containing linker protein 2 JBrowse link 12 25,172,957 25,236,935 RGD:734863
RGD:13592920
G Dlg4 discs large MAGUK scaffold protein 4 JBrowse link 10 56,625,845 56,655,543 RGD:11554173
G Eif4h eukaryotic translation initiation factor 4H JBrowse link 12 25,093,119 25,109,805 RGD:1580597
RGD:13592920
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:7207897
RGD:11554173
RGD:9585755
G Fkbp6 FKBP prolyl isomerase 6 JBrowse link 12 24,365,941 24,438,088 RGD:1582483
G Fzd3 frizzled class receptor 3 JBrowse link 15 48,601,259 48,670,257 RGD:1582654
G Fzd9 frizzled class receptor 9 JBrowse link 12 24,473,981 24,476,295 RGD:13592920
G Gtf2i general transcription factor II I JBrowse link 12 25,410,804 25,487,970 RGD:11554173
G Gtf2ird1 GTF2I repeat domain containing 1 JBrowse link 12 25,264,052 25,370,947 RGD:11554173
G Lat2 linker for activation of T cells family, member 2 JBrowse link 12 25,114,099 25,128,381 RGD:1549872
G Limk1 LIM domain kinase 1 JBrowse link 12 25,036,630 25,070,538 RGD:13592920
G Lox lysyl oxidase JBrowse link 18 47,500,320 47,577,819 RGD:13592920
G Mlxipl MLX interacting protein-like JBrowse link 12 24,590,645 24,619,639 RGD:11554173
G Ncf1 neutrophil cytosolic factor 1 JBrowse link 12 25,497,104 25,506,300 RGD:1624399
G Rcc1l RCC1 like JBrowse link 12 25,561,871 25,592,337 RGD:1580600
G Src SRC proto-oncogene, non-receptor tyrosine kinase JBrowse link 3 153,547,807 153,595,643 RGD:13592920
Wolf-Hirschhorn syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cplx1 complexin 1 JBrowse link 14 2,194,895 2,226,610 RGD:11554173
G Ctbp1 C-terminal binding protein 1 JBrowse link 14 82,762,109 82,789,350 RGD:11554173
G Fgfrl1 fibroblast growth factor receptor-like 1 JBrowse link 14 2,020,110 2,032,169 RGD:11554173
G Letm1 leucine zipper and EF-hand containing transmembrane protein 1 JBrowse link 14 82,227,790 82,267,298 RGD:11554173
G Msx1 msh homeobox 1 JBrowse link 14 77,712,262 77,716,061 RGD:11554173
G Nsd2 nuclear receptor binding SET domain protein 2 JBrowse link 14 82,119,210 82,196,501 RGD:11554173
RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      chromosomal deletion syndrome 325
        10p Deletion Syndrome (partial) 0
        16p11.2 Deletion Syndrome 27
        22q11 Deletion Syndrome + 43
        3p- syndrome 0
        Cri-du-Chat syndrome + 1
        Jacobsen Distal 11q Deletion Syndrome + 0
        Koolen de Vries syndrome 1
        Miller-Dieker lissencephaly syndrome 5
        Phelan-McDermid syndrome 2
        Potocki-Shaffer Syndrome 0
        Smith-Magenis syndrome + 35
        WAGR syndrome + 2
        Williams-Beuren syndrome + 17
        Wolf-Hirschhorn syndrome 6
        chromosome 10q23 deletion syndrome 1
        chromosome 13q14 deletion syndrome 71
        chromosome 14q11-q22 deletion syndrome 0
        chromosome 15q11.2 deletion syndrome 1
        chromosome 15q13.3 microdeletion syndrome 7
        chromosome 15q24 deletion syndrome 10
        chromosome 15q25 deletion syndrome 0
        chromosome 15q26-qter deletion syndrome 0
        chromosome 16p11.2 deletion syndrome, 220kb 0
        chromosome 16p12.1 deletion syndrome, 520kb 0
        chromosome 16p12.2-p11.2 deletion syndrome 0
        chromosome 16q22 deletion syndrome 0
        chromosome 17p13.1 deletion syndrome 0
        chromosome 17q11.2 deletion syndrome, 1.4Mb 1
        chromosome 17q12 deletion syndrome 18
        chromosome 17q23.1-q23.2 deletion syndrome 0
        chromosome 18p deletion syndrome 0
        chromosome 18q deletion syndrome 0
        chromosome 19p13.13 deletion syndrome 0
        chromosome 19q13.11 deletion syndrome 0
        chromosome 1p32-p31 deletion syndrome 1
        chromosome 1p36 deletion syndrome 2
        chromosome 1q21.1 deletion syndrome 8
        chromosome 1q41-q42 deletion syndrome + 1
        chromosome 22q11.2 deletion syndrome, distal 0
        chromosome 2p12-p11.2 deletion syndrome 0
        chromosome 2p16.1-p15 deletion syndrome 0
        chromosome 2q31.2 deletion syndrome 0
        chromosome 2q32-q33 deletion syndrome 1
        chromosome 3q13.31 deletion syndrome 0
        chromosome 3q29 microdeletion syndrome 0
        chromosome 4q21 deletion syndrome 0
        chromosome 5q12 deletion syndrome 0
        chromosome 6pter-p24 deletion syndrome 0
        chromosome 6q11-q14 deletion syndrome 0
        chromosome 6q24-q25 deletion syndrome 0
        chromosome 8q21.11 deletion syndrome 0
        chromosome 9p deletion syndrome 1
        chromosome Xp21 deletion syndrome 0
        distal 10q deletion syndrome 0
        hypoparathyroidism-deafness-renal disease syndrome 70
        thrombocytopenia-absent radius syndrome 12
Path 2
Term Annotations click to browse term
  disease 14875
    Pathological Conditions, Signs and Symptoms 7362
      Pathologic Processes 4865
        Chromosome Aberrations 519
          Aneuploidy 426
            Monosomy 381
              Chromosome Deletion 381
                chromosomal deletion syndrome 325
                  10p Deletion Syndrome (partial) 0
                  16p11.2 Deletion Syndrome 27
                  22q11 Deletion Syndrome + 43
                  3p- syndrome 0
                  Cri-du-Chat syndrome + 1
                  Jacobsen Distal 11q Deletion Syndrome + 0
                  Koolen de Vries syndrome 1
                  Miller-Dieker lissencephaly syndrome 5
                  Phelan-McDermid syndrome 2
                  Potocki-Shaffer Syndrome 0
                  Smith-Magenis syndrome + 35
                  WAGR syndrome + 2
                  Williams-Beuren syndrome + 17
                  Wolf-Hirschhorn syndrome 6
                  chromosome 10q23 deletion syndrome 1
                  chromosome 13q14 deletion syndrome 71
                  chromosome 14q11-q22 deletion syndrome 0
                  chromosome 15q11.2 deletion syndrome 1
                  chromosome 15q13.3 microdeletion syndrome 7
                  chromosome 15q24 deletion syndrome 10
                  chromosome 15q25 deletion syndrome 0
                  chromosome 15q26-qter deletion syndrome 0
                  chromosome 16p11.2 deletion syndrome, 220kb 0
                  chromosome 16p12.1 deletion syndrome, 520kb 0
                  chromosome 16p12.2-p11.2 deletion syndrome 0
                  chromosome 16q22 deletion syndrome 0
                  chromosome 17p13.1 deletion syndrome 0
                  chromosome 17q11.2 deletion syndrome, 1.4Mb 1
                  chromosome 17q12 deletion syndrome 18
                  chromosome 17q23.1-q23.2 deletion syndrome 0
                  chromosome 18p deletion syndrome 0
                  chromosome 18q deletion syndrome 0
                  chromosome 19p13.13 deletion syndrome 0
                  chromosome 19q13.11 deletion syndrome 0
                  chromosome 1p32-p31 deletion syndrome 1
                  chromosome 1p36 deletion syndrome 2
                  chromosome 1q21.1 deletion syndrome 8
                  chromosome 1q41-q42 deletion syndrome + 1
                  chromosome 22q11.2 deletion syndrome, distal 0
                  chromosome 2p12-p11.2 deletion syndrome 0
                  chromosome 2p16.1-p15 deletion syndrome 0
                  chromosome 2q31.2 deletion syndrome 0
                  chromosome 2q32-q33 deletion syndrome 1
                  chromosome 3q13.31 deletion syndrome 0
                  chromosome 3q29 microdeletion syndrome 0
                  chromosome 4q21 deletion syndrome 0
                  chromosome 5q12 deletion syndrome 0
                  chromosome 6pter-p24 deletion syndrome 0
                  chromosome 6q11-q14 deletion syndrome 0
                  chromosome 6q24-q25 deletion syndrome 0
                  chromosome 8q21.11 deletion syndrome 0
                  chromosome 9p deletion syndrome 1
                  chromosome Xp21 deletion syndrome 0
                  distal 10q deletion syndrome 0
                  hypoparathyroidism-deafness-renal disease syndrome 70
                  thrombocytopenia-absent radius syndrome 12
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.