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ONTOLOGY REPORT - ANNOTATIONS


Term:Developmental Disabilities
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Accession:DOID:9008086 term browser browse the term
Definition:Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)
Synonyms:exact_synonym: Child Development Deviation;   Child Development Deviations;   Child Development Disorder;   Child Development Disorders;   Child Development Disorders, Specific;   DEVELOPMENTAL DELAY;   Developmental Delay Disorder;   Developmental Delay Disorders;   Developmental Disability;   Global developmental delay
 primary_id: MESH:D002658;   RDO:0000673
For additional species annotation, visit the Alliance of Genome Resources.


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Developmental Disabilities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aar2 AAR2 splicing factor JBrowse link NW_004936561 4,709,351 4,729,849 RGD:9068941
G Aco2 aconitase 2 JBrowse link NW_004936492 407,482 452,538 RGD:9068941
G Acsf3 acyl-CoA synthetase family member 3 JBrowse link NW_004936641 700,218 736,875 RGD:9068941
G Actl6a actin like 6A JBrowse link NW_004936566 3,577,412 3,587,182 RGD:9068941
G Actl6b actin like 6B JBrowse link NW_004936543 683,301 696,485 RGD:9068941
G Adap2 ArfGAP with dual PH domains 2 JBrowse link NW_004936538 2,767,489 2,790,080 RGD:9068941
G Adgrg1 adhesion G protein-coupled receptor G1 JBrowse link NW_004936475 9,653,233 9,683,258 RGD:9068941
G Adnp activity dependent neuroprotector homeobox JBrowse link NW_004936514 3,855,113 3,883,036 RGD:9068941
G Agtpbp1 ATP/GTP binding protein 1 JBrowse link NW_004936680 1,065,375 1,240,909 RGD:9068941
G Ahdc1 AT-hook DNA binding motif containing 1 JBrowse link NW_004936474 11,824,692 11,846,355 RGD:9068941
G Ahi1 Abelson helper integration site 1 JBrowse link NW_004936560 2,881,631 3,057,256 RGD:9068941
G Akt3 AKT serine/threonine kinase 3 JBrowse link NW_004936526 6,944,056 7,201,226 RGD:9068941
G Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit JBrowse link NW_004936499 3,558,273 3,629,570 RGD:9068941
G Ambra1 autophagy and beclin 1 regulator 1 JBrowse link NW_004936562 2,493,823 2,676,868 RGD:9068941
G Ampd2 adenosine monophosphate deaminase 2 JBrowse link NW_004936704 1,092,180 1,111,722 RGD:9068941
G Ankrd11 ankyrin repeat domain 11 JBrowse link NW_004936641 569,002 661,935 RGD:9068941
G Ap4m1 adaptor related protein complex 4 subunit mu 1 JBrowse link NW_004936543 246,335 250,278 RGD:9068941
G Arfgap1 ADP ribosylation factor GTPase activating protein 1 JBrowse link NW_004936514 10,627,700 10,641,157 RGD:9068941
G Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 JBrowse link NW_004936496 6,807,388 6,914,960 RGD:9068941
G Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 JBrowse link NW_004936514 5,172,752 5,262,823 RGD:9068941
G Arl14ep ADP ribosylation factor like GTPase 14 effector protein JBrowse link NW_004936533 7,322,297 7,328,478 RGD:9068941
G As3mt arsenite methyltransferase JBrowse link NW_004936600 3,050,946 3,069,786 RGD:9068941
G Ash2l ASH2 like, histone lysine methyltransferase complex subunit JBrowse link NW_004936710 1,489,483 1,519,469 RGD:9068941
G Asxl1 ASXL transcriptional regulator 1 JBrowse link NW_004936485 19,218,494 19,297,188 RGD:9068941
G Atad5 ATPase family AAA domain containing 5 JBrowse link NW_004936538 2,815,370 2,877,084 RGD:9068941
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link NW_004936706 476,473 494,659 RGD:9068941
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 JBrowse link NW_004936809 396,883 466,372 RGD:9068941
G Atrx ATRX chromatin remodeler JBrowse link NW_004936683 2,496,307 2,718,539 RGD:9068941
G Bcap31 B cell receptor associated protein 31 JBrowse link NW_004936809 582,689 614,800 RGD:9068941
G Bcl11a BAF chromatin remodeling complex subunit BCL11A JBrowse link NW_004936491 6,021,340 6,118,103 RGD:9068941
G Borcs5 BLOC-1 related complex subunit 5 JBrowse link NW_004936587 4,806,537 4,906,301 RGD:9068941
G Bptf bromodomain PHD finger transcription factor JBrowse link NW_004936541 5,261,899 5,396,930 RGD:9068941
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link NW_004936592 4,728,371 4,833,830 RGD:9068941
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link NW_004936659 2,201,606 2,269,625 RGD:9068941
G Camkmt calmodulin-lysine N-methyltransferase JBrowse link NW_004936508 7,265,496 7,637,513 RGD:9068941
G Casr calcium sensing receptor JBrowse link NW_004936536 8,574,064 8,599,446 RGD:9068941
G Cbl Cbl proto-oncogene JBrowse link NW_004936542 4,136,389 4,235,746 RGD:9068941
G Cdkl5 cyclin dependent kinase like 5 JBrowse link NW_004936844 101,815 271,254 RGD:9068941
G Celsr2 cadherin EGF LAG seven-pass G-type receptor 2 JBrowse link NW_004936704 779,528 803,860 RGD:9068941
G Cep290 centrosomal protein 290 JBrowse link NW_004936507 5,223,756 5,305,392 RGD:9068941
G Cep97 centrosomal protein 97 JBrowse link NW_004936630 1,715,225 1,734,560 RGD:9068941
G Chaf1b chromatin assembly factor 1 subunit B JBrowse link NW_004936500 6,262,207 6,288,833 RGD:9068941
G Chd4 chromodomain helicase DNA binding protein 4 JBrowse link NW_004936709 1,183,243 1,214,144 RGD:9068941
G Chrm4 cholinergic receptor muscarinic 4 JBrowse link NW_004936562 2,685,209 2,687,751 RGD:9068941
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit JBrowse link NW_004936514 10,680,893 10,695,859 RGD:9068941
G Cntn4 contactin 4 JBrowse link NW_004936577 2,298,648 2,768,864 RGD:9068941
G Coprs coordinator of PRMT5 and differentiation stimulator JBrowse link NW_004936538 3,045,334 3,048,576 RGD:9068941
G Cpa6 carboxypeptidase A6 JBrowse link NW_004936496 6,484,438 6,761,816 RGD:9068941
G Cplane1 ciliogenesis and planar polarity effector 1 JBrowse link NW_004936518 4,706,496 4,847,283 RGD:9068941
G Creb3l1 cAMP responsive element binding protein 3 like 1 JBrowse link NW_004936562 2,739,908 2,772,484 RGD:9068941
G Crebbp CREB binding protein JBrowse link NW_004936694 552,447 663,237 RGD:9068941
G Crlf3 cytokine receptor like factor 3 JBrowse link NW_004936538 2,877,564 2,916,952 RGD:9068941
G Cspp1 centrosome and spindle pole associated protein 1 JBrowse link NW_004936496 6,915,840 7,036,205 RGD:9068941
G Cul4b cullin 4B JBrowse link NW_004936479 9,490,717 9,535,998 RGD:9068941
G CUNH12orf57 chromosome unknown C12orf57 homolog JBrowse link NW_004936709 884,741 886,617 RGD:9068941
G CUNH19orf12 chromosome unknown C19orf12 homolog JBrowse link NW_004936570 5,628,593 5,640,982 RGD:9068941
G Dchs1 dachsous cadherin-related 1 JBrowse link NW_004936842 677,416 697,013 RGD:9068941
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit JBrowse link NW_004936755 871,935 1,024,538 RGD:9068941
G Dgkz diacylglycerol kinase zeta JBrowse link NW_004936562 2,690,907 2,733,455 RGD:9068941
G Dhx30 DExH-box helicase 30 JBrowse link NW_004936596 1,419,165 1,454,797 RGD:9068941
G Diaph1 diaphanous related formin 1 JBrowse link NW_004936504 12,548,452 12,645,236 RGD:9068941
G Dmbx1 diencephalon/mesencephalon homeobox 1 JBrowse link NW_004936474 27,504,419 27,529,196 RGD:9068941
G Dock3 dedicator of cytokinesis 3 JBrowse link NW_004936529 2,182,261 2,771,107 RGD:9068941
G Dock8 dedicator of cytokinesis 8 JBrowse link NW_004936503 4,362,573 4,575,307 RGD:9068941
G Dph2 diphthamide biosynthesis 2 JBrowse link NW_004936474 25,288,714 25,292,287 RGD:9068941
G Dpyd dihydropyrimidine dehydrogenase JBrowse link NW_004936537 1,660,461 2,439,305 RGD:9068941
G Drd2 dopamine receptor D2 JBrowse link NW_004936612 1,094,686 1,154,149 RGD:9068941
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link NW_004936835 225,879 290,160 RGD:9068941
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial JBrowse link NW_004936501 8,190,466 8,209,320 RGD:9068941
G Ebf3 EBF transcription factor 3 JBrowse link NW_004936486 16,978,048 17,092,209 RGD:9068941
G Eftud2 elongation factor Tu GTP binding domain containing 2 JBrowse link NW_004936541 1,216,584 1,259,355 RGD:9068941
G Ehmt1 euchromatic histone lysine methyltransferase 1 JBrowse link NW_004936669 321,580 450,061 RGD:9068941
G Emc1 ER membrane protein complex subunit 1 JBrowse link NW_004936474 5,512,100 5,539,198 RGD:9068941
G Ep300 E1A binding protein p300 JBrowse link NW_004936492 696,982 778,132 RGD:9068941
G Eri1 exoribonuclease 1 JBrowse link NW_004936573 1,448,325 1,474,753 RGD:9068941
G Evi2a ecotropic viral integration site 2A JBrowse link NW_004936538 3,448,784 3,453,369 RGD:9068941
G Evi2b ecotropic viral integration site 2B JBrowse link NW_004936538 3,454,956 3,464,878 RGD:9068941
G Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial JBrowse link NW_004936534 6,703,760 7,205,204 RGD:9068941
G Fbxl4 F-box and leucine rich repeat protein 4 JBrowse link NW_004936651 530,296 609,443 RGD:9068941
G Foxp4 forkhead box P4 JBrowse link NW_004936476 18,314,108 18,346,149 RGD:9068941
G Foxred1 FAD dependent oxidoreductase domain containing 1 JBrowse link NW_004936572 5,943,309 5,950,476 RGD:9068941
G Gabrb3 gamma-aminobutyric acid type A receptor beta3 subunit JBrowse link NW_004936471 39,791,633 40,193,049 RGD:9068941
G Gk glycerol kinase JBrowse link NW_004936553 6,707,148 6,787,245 RGD:9068941
G Gli3 GLI family zinc finger 3 JBrowse link NW_004936478 17,129,922 17,403,630 RGD:9068941
G Gmppb GDP-mannose pyrophosphorylase B JBrowse link NW_004936529 1,336,002 1,338,615 RGD:9068941
G Gnb1 G protein subunit beta 1 JBrowse link NW_004936737 1,518,855 1,554,926 RGD:9068941
G Gnb5 G protein subunit beta 5 JBrowse link NW_004936471 13,952,462 14,001,663 RGD:9068941
G Golph3 golgi phosphoprotein 3 JBrowse link NW_004936518 8,602,367 8,635,665 RGD:9068941
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 JBrowse link NW_004936669 814,330 838,881 RGD:9068941
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A JBrowse link NW_004936530 8,286,101 8,612,183 RGD:9068941
G Grm7 glutamate metabotropic receptor 7 JBrowse link NW_004936602 5,111,406 5,488,506 RGD:9068941
G Harbi1 harbinger transposase derived 1 JBrowse link NW_004936562 2,473,389 2,481,724 RGD:9068941
G Hdac8 histone deacetylase 8 JBrowse link NW_004936762 1,425,337 1,652,058 RGD:9068941
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 JBrowse link NW_004936471 38,419,147 38,606,312 RGD:9068941
G Ids iduronate 2-sulfatase JBrowse link NW_004936513 62,966 88,844 RGD:9068941
G Isca2 iron-sulfur cluster assembly 2 JBrowse link NW_004936488 3,676,752 3,678,741 RGD:9068941
G Kat14 lysine acetyltransferase 14 JBrowse link NW_004936485 1,992,894 2,031,632 RGD:9068941
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 JBrowse link NW_004936514 10,735,247 10,787,682 RGD:9068941
G Kcnt1 potassium sodium-activated channel subfamily T member 1 JBrowse link NW_004936669 1,834,879 1,867,572 RGD:9068941
G Kdm1a lysine demethylase 1A JBrowse link NW_004936474 8,262,913 8,319,089 RGD:9068941
G Kdm2b lysine demethylase 2B JBrowse link NW_004936558 2,771,420 2,897,694 RGD:9068941
G Kif1a kinesin family member 1A JBrowse link NW_004936745 911,651 976,878 RGD:9068941
G Kif5b kinesin family member 5B JBrowse link NW_004936574 780,074 823,858 RGD:9068941
G Kirrel3 kirre like nephrin family adhesion molecule 3 JBrowse link NW_004936572 5,763,098 5,797,410 RGD:9068941
G Kmt2c lysine methyltransferase 2C JBrowse link NW_004936527 7,310,885 7,508,032 RGD:9068941
G Las1l LAS1 like ribosome biogenesis factor JBrowse link NW_004936635 2,560,586 2,580,309 RGD:9068941
G LOC101961662 biotinidase JBrowse link NW_004936473 2,787,386 2,823,014 RGD:9068941
G LOC101965237 transmembrane protein 47 JBrowse link NW_004936502 1,990,524 2,018,707 RGD:9068941
G LOC101973126 cytochrome P450 2U1 JBrowse link NW_004936818 650,593 672,349 RGD:9068941
G Lrp2 LDL receptor related protein 2 JBrowse link NW_004936469 10,245,001 10,438,933 RGD:9068941
G Lrrc32 leucine rich repeat containing 32 JBrowse link NW_004936498 5,305,680 5,315,580 RGD:9068941
G Maged2 MAGE family member D2 JBrowse link NW_004936751 1,639,276 1,647,494 RGD:9068941
G Map1b microtubule associated protein 1B JBrowse link NW_004936549 4,266,371 4,371,579 RGD:9068941
G Mapk3 mitogen-activated protein kinase 3 JBrowse link NW_004936501 12,342,670 12,390,650 RGD:9068941
G Mcph1 microcephalin 1 JBrowse link NW_004936615 4,386,667 4,580,720 RGD:9068941
G Mdk midkine JBrowse link NW_004936562 2,687,825 2,690,292 RGD:9068941
G Mecp2 methyl-CpG binding protein 2 JBrowse link NW_004936809 902,938 967,771 RGD:9068941
G Med12 mediator complex subunit 12 JBrowse link NW_004936762 460,342 483,264 RGD:9068941
G Mff mitochondrial fission factor JBrowse link NW_004936525 8,604,478 8,636,352 RGD:9068941
G Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase JBrowse link NW_004936583 396,787 399,697 RGD:9068941
G Mks1 MKS transition zone complex subunit 1 JBrowse link NW_004936490 4,865,243 4,876,601 RGD:9068941
G Mlh1 mutL homolog 1 JBrowse link NW_004936473 26,556,636 26,600,830 RGD:9068941
G Mllt1 MLLT1 super elongation complex subunit JBrowse link NW_004936588 3,619,480 3,678,532 RGD:9068941
G Mpp4 membrane palmitoylated protein 4 JBrowse link NW_004936726 893,411 938,876 RGD:9068941
G Msl3 MSL complex subunit 3 JBrowse link NW_004936470 1,572,037 1,587,002 RGD:9068941
G Mtss2 MTSS I-BAR domain containing 2 JBrowse link NW_004936475 22,948,608 22,967,489 RGD:9068941
G Myo15a myosin XVA JBrowse link NW_004936741 1,669,680 1,724,929 RGD:9068941
G Nans N-acetylneuraminate synthase JBrowse link NW_004936524 6,772,831 6,791,854 RGD:9068941
G Ncor1 nuclear receptor corepressor 1 JBrowse link NW_004936821 382,756 538,254 RGD:9068941
G Ndc1 NDC1 transmembrane nucleoporin JBrowse link NW_004936522 7,303,366 7,353,700 RGD:9068941
G Nf1 neurofibromin 1 JBrowse link NW_004936538 3,394,623 3,596,025 RGD:9068941
G Nipbl NIPBL cohesin loading factor JBrowse link NW_004936518 4,870,686 5,041,099 RGD:9068941
G Nol11 nucleolar protein 11 JBrowse link NW_004936541 5,448,346 5,475,064 RGD:9068941
G Npc2 NPC intracellular cholesterol transporter 2 JBrowse link NW_004936488 3,664,171 3,676,438 RGD:9068941
G Nr2f1 nuclear receptor subfamily 2 group F member 1 JBrowse link NW_004936523 9,508,204 9,517,266 RGD:9068941
G Nsd1 nuclear receptor binding SET domain protein 1 JBrowse link NW_004936597 1,426,318 1,577,193 RGD:9068941
G Ntng2 netrin G2 JBrowse link NW_004936487 18,779,470 18,838,245 RGD:9068941
G Ntrk2 neurotrophic receptor tyrosine kinase 2 JBrowse link NW_004936680 267,850 621,467 RGD:9068941
G Nup107 nucleoporin 107 JBrowse link NW_004936545 6,600,124 6,642,839 RGD:9068941
G Nup155 nucleoporin 155 JBrowse link NW_004936518 4,635,970 4,688,669 RGD:9068941
G Nup214 nucleoporin 214 JBrowse link NW_004936487 17,981,402 18,067,828 RGD:9068941
G Ocln occludin JBrowse link NW_004936480 99,516 152,834 RGD:9068941
G Omg oligodendrocyte myelin glycoprotein JBrowse link NW_004936538 3,473,037 3,475,814 RGD:9068941
G Otc ornithine carbamoyltransferase JBrowse link NW_004936502 5,234,253 5,291,891 RGD:9068941
G Pccb propionyl-CoA carboxylase subunit beta JBrowse link NW_004936529 9,106,525 9,166,311 RGD:9068941
G Pcdh19 protocadherin 19 JBrowse link NW_004936584 5,568,740 5,668,095 RGD:9068941
G Pcnt pericentrin JBrowse link NW_004936778 149,844 248,905 RGD:9068941
G Pdpr pyruvate dehydrogenase phosphatase regulatory subunit JBrowse link NW_004936475 23,332,093 23,373,151 RGD:9068941
G Pdzd2 PDZ domain containing 2 JBrowse link NW_004936518 8,647,338 8,883,494 RGD:9068941
G Pgap3 post-GPI attachment to proteins phospholipase 3 JBrowse link NW_004936490 14,862,204 14,877,217 RGD:9068941
G Pigq phosphatidylinositol glycan anchor biosynthesis class Q JBrowse link NW_004936501 415,232 429,902 RGD:9068941
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 JBrowse link NW_004936596 3,010,526 3,021,848 RGD:9068941
G Pmp22 peripheral myelin protein 22 JBrowse link NW_004936724 1,747,015 1,780,298 RGD:9068941
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link NW_004936664 3,649,020 3,656,545 RGD:9068941
G Polg DNA polymerase gamma, catalytic subunit JBrowse link NW_004936483 15,178,947 15,196,277 RGD:9068941
G Prorp protein only RNase P catalytic subunit JBrowse link NW_004936494 9,282,894 9,414,350 RGD:9068941
G Prps1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link NW_004936499 7,114,838 7,136,468 RGD:9068941
G Prrt2 proline rich transmembrane protein 2 JBrowse link NW_004936501 12,660,181 12,663,788 RGD:9068941
G Pten phosphatase and tensin homolog JBrowse link NW_004936735 1,252,414 1,338,318 RGD:9068941
G Ptpn23 protein tyrosine phosphatase non-receptor type 23 JBrowse link NW_004936596 1,094,285 1,124,483 RGD:9068941
G Pura purine rich element binding protein A JBrowse link NW_004936531 9,129,024 9,134,916 RGD:9068941
G Rab11fip4 RAB11 family interacting protein 4 JBrowse link NW_004936538 3,269,317 3,382,298 RGD:9068941
G Rnaseh2b ribonuclease H2 subunit B JBrowse link NW_004936565 3,791,305 3,839,991 RGD:9068941
G Rnf135 ring finger protein 135 JBrowse link NW_004936538 2,741,308 2,757,042 RGD:9068941
G Rps6ka3 ribosomal protein S6 kinase A3 JBrowse link NW_004936624 3,897,878 4,005,664 RGD:9068941
G Rps6kc1 ribosomal protein S6 kinase C1 JBrowse link NW_004936557 361,071 578,298 RGD:9068941
G Rubcn rubicon autophagy regulator JBrowse link NW_004936784 370,173 438,263 RGD:9068941
G Satb2 SATB homeobox 2 JBrowse link NW_004936506 34,968 206,432 RGD:9068941
G Scn8a sodium voltage-gated channel alpha subunit 8 JBrowse link NW_004936512 9,164,310 9,281,795 RGD:9068941
G Scn9a sodium voltage-gated channel alpha subunit 9 JBrowse link NW_004936469 13,063,971 13,153,030 RGD:9068941
G Shank3 SH3 and multiple ankyrin repeat domains 3 JBrowse link NW_004936629 114,175 168,697 RGD:9068941
G Slc13a5 solute carrier family 13 member 5 JBrowse link NW_004936677 1,288,637 1,316,884 RGD:9068941
G Slc1a3 solute carrier family 1 member 3 JBrowse link NW_004936518 5,216,343 5,291,107 RGD:9068941
G Slc25a22 solute carrier family 25 member 22 JBrowse link NW_004936888 558,064 565,576 RGD:9068941
G Slc2a1 solute carrier family 2 member 1 JBrowse link NW_004936474 24,205,878 24,236,611 RGD:9068941
G Slc33a1 solute carrier family 33 member 1 JBrowse link NW_004936519 3,038,895 3,061,215 RGD:9068941
G Slc35f1 solute carrier family 35 member F1 JBrowse link NW_004936658 851,751 1,238,263 RGD:9068941
G Slc4a4 solute carrier family 4 member 4 JBrowse link NW_004936598 3,391,587 3,713,629 RGD:9068941
G Slc6a8 solute carrier family 6 member 8 JBrowse link NW_004936809 571,234 578,298 RGD:9068941
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link NW_004936659 1,152,846 1,246,718 RGD:9068941
G Smc1a structural maintenance of chromosomes 1A JBrowse link NW_004936751 332,351 388,756 RGD:9068941
G Smg9 SMG9 nonsense mediated mRNA decay factor JBrowse link NW_004936706 908,471 929,075 RGD:9068941
G Son SON DNA and RNA binding protein JBrowse link NW_004936500 8,721,155 8,752,906 RGD:9068941
G Sptbn4 spectrin beta, non-erythrocytic 4 JBrowse link NW_004936661 2,831,132 2,903,619 RGD:9068941
G St7 suppression of tumorigenicity 7 JBrowse link NW_004936589 1,899,714 2,119,063 RGD:9068941
G Stambp STAM binding protein JBrowse link NW_004936556 143,483 174,383 RGD:9068941
G Stxbp1 syntaxin binding protein 1 JBrowse link NW_004936487 15,300,758 15,367,475 RGD:9068941
G Sucla2 succinate-CoA ligase ADP-forming beta subunit JBrowse link NW_004936565 1,313,150 1,355,693 RGD:9068941
G Syngap1 synaptic Ras GTPase activating protein 1 JBrowse link NW_004936476 25,446,524 25,474,793 RGD:9068941
G Taf6 TATA-box binding protein associated factor 6 JBrowse link NW_004936543 250,174 256,405 RGD:9068941
G Tasp1 taspase 1 JBrowse link NW_004936485 6,163,809 6,460,361 RGD:9068941
G Tbcd tubulin folding cofactor D JBrowse link NW_004936923 239,029 366,503 RGD:9068941
G Tbck TBC1 domain containing kinase JBrowse link NW_004936814 837,394 1,052,220 RGD:9068941
G Tcf4 transcription factor 4 JBrowse link NW_004936497 8,410,882 8,765,678 RGD:9068941
G Tctn1 tectonic family member 1 JBrowse link NW_004936558 3,552,909 3,581,212 RGD:9068941
G Tefm transcription elongation factor, mitochondrial JBrowse link NW_004936538 2,803,195 2,812,939 RGD:9068941
G Tmem67 transmembrane protein 67 JBrowse link NW_004936544 6,887,867 6,931,669 RGD:9068941
G Tmem92 transmembrane protein 92 JBrowse link NW_004936490 11,387,480 11,392,246 RGD:9068941
G Trh thyrotropin releasing hormone JBrowse link NW_004936602 623,542 626,337 RGD:9068941
G Trpm3 transient receptor potential cation channel subfamily M member 3 JBrowse link NW_004936503 6,688,476 7,188,417 RGD:9068941
G Tsen15 tRNA splicing endonuclease subunit 15 JBrowse link NW_004936481 5,901,078 5,916,455 RGD:9068941
G Tsen54 tRNA splicing endonuclease subunit 54 JBrowse link NW_004936594 744,531 753,350 RGD:9068941
G Tuba1a tubulin alpha 1a JBrowse link NW_004936512 6,959,656 6,964,299 RGD:9068941
G Ube3a ubiquitin protein ligase E3A JBrowse link NW_004936471 41,187,665 41,290,345 RGD:9068941
G Unc80 unc-80 homolog, NALCN channel complex subunit JBrowse link NW_004936845 268,357 454,557 RGD:9068941
G Vps13b vacuolar protein sorting 13 homolog B JBrowse link NW_004936470 43,281,905 43,952,523 RGD:9068941
G Wdfy4 WDFY family member 4 JBrowse link NW_004936728 1,262,433 1,503,805 RGD:9068941
G Wdr37 WD repeat domain 37 JBrowse link NW_004936484 12,948,803 13,020,555 RGD:9068941
G Wdr45 WD repeat domain 45 JBrowse link NW_004936721 975,113 981,149 RGD:9068941
G Wdr70 WD repeat domain 70 JBrowse link NW_004936518 4,343,919 4,623,136 RGD:9068941
G Wwox WW domain containing oxidoreductase JBrowse link NW_004936475 26,342,245 27,209,563 RGD:9068941
3MC syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Colec10 collectin subfamily member 10 JBrowse link NW_004936470 27,416,471 27,449,206 RGD:7240710
RGD:9068941
G Colec11 collectin subfamily member 11 JBrowse link NW_004936532 1,757,288 1,776,053 RGD:9068941
G Masp1 mannan binding lectin serine peptidase 1 JBrowse link NW_004936578 2,804,460 2,857,731 RGD:9068941
AGAT deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Duox1 dual oxidase 1 JBrowse link NW_004936471 7,848,472 7,881,417 RGD:9068941
G Duox2 dual oxidase 2 JBrowse link NW_004936471 7,812,163 7,831,258 RGD:9068941
G Duoxa1 dual oxidase maturation factor 1 JBrowse link NW_004936471 7,836,790 7,846,437 RGD:9068941
G Duoxa2 dual oxidase maturation factor 2 JBrowse link NW_004936471 7,832,234 7,835,488 RGD:9068941
G Gatm glycine amidinotransferase JBrowse link NW_004936471 8,017,611 8,032,703 RGD:7240710
RGD:9068941
G Shf Src homology 2 domain containing F JBrowse link NW_004936471 7,881,484 7,901,583 RGD:9068941
G Slc28a2 solute carrier family 28 member 2 JBrowse link NW_004936471 7,937,490 7,967,568 RGD:9068941
G Sord sorbitol dehydrogenase JBrowse link NW_004936471 7,760,097 7,805,475 RGD:9068941
G Terb2 telomere repeat binding bouquet formation protein 2 JBrowse link NW_004936471 7,713,562 7,728,720 RGD:9068941
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppp3ca protein phosphatase 3 catalytic subunit alpha JBrowse link NW_004936520 1,987,989 2,146,473 RGD:7240710
RGD:9068941
Bainbridge-Ropers Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asxl3 ASXL transcriptional regulator 3 JBrowse link NW_004936517 11,064,986 11,074,992 RGD:7240710
RGD:9068941
Beaulieu-Boycott-Innes Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Thoc6 THO complex 6 JBrowse link NW_004936694 1,144,122 1,147,345 RGD:7240710
RGD:9068941
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam172a family with sequence similarity 172 member A JBrowse link NW_004936523 9,037,516 9,485,257 RGD:9068941
G Kiaa0825 KIAA0825 ortholog JBrowse link NW_004936523 8,634,617 9,015,742 RGD:9068941
G Nr2f1 nuclear receptor subfamily 2 group F member 1 JBrowse link NW_004936523 9,508,204 9,517,266 RGD:7240710
RGD:9068941
G Pou5f2 POU domain class 5, transcription factor 2 JBrowse link NW_004936523 9,360,876 9,363,054 RGD:9068941
Brachycephaly, Trichomegaly, and Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rps23 ribosomal protein S23 JBrowse link NW_004936469 1,523,667 1,525,830 RGD:7240710
RGD:9068941
Cerebellar Atrophy with Seizures and Variable Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 JBrowse link NW_004936529 1,889,811 2,023,710 RGD:7240710
RGD:9068941
G LOC101977457 cytochrome b561 domain-containing protein 2 JBrowse link NW_004936529 1,878,745 1,880,073 RGD:9068941
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 JBrowse link NW_004936521 2,000,113 2,706,010 RGD:7240710
RGD:9068941
Cerebellar Hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1a AT-rich interaction domain 1A JBrowse link NW_004936474 11,148,857 11,197,312 RGD:9068941
G Bcor BCL6 corepressor JBrowse link NW_004936502 6,764,043 6,812,194 RGD:9068941
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link NW_004936835 225,879 290,160 RGD:9068941
G Kctd3 potassium channel tetramerization domain containing 3 JBrowse link NW_004936628 2,862,536 2,912,784 RGD:9068941
G LOC101977674 oligophrenin-1 JBrowse link NW_004936635 6,966 243,209 RGD:9068941
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase JBrowse link NW_004936477 4,335,945 4,368,117 RGD:9068941
G Tsen54 tRNA splicing endonuclease subunit 54 JBrowse link NW_004936594 744,531 753,350 RGD:9068941
G Vldlr very low density lipoprotein receptor JBrowse link NW_004936503 2,407,040 2,440,366 RGD:9068941
G Wdr37 WD repeat domain 37 JBrowse link NW_004936484 12,948,803 13,020,555 RGD:9068941
Cerebellofaciodental Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brf1 BRF1 RNA polymerase III transcription initiation factor subunit JBrowse link NW_004936621 265,834 329,255 RGD:7240710
RGD:9068941
Chondrodysplasia, Megarbane-Dagher-Melki Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pam16 presequence translocase associated motor 16 JBrowse link NW_004936694 153,958 161,635 RGD:7240710
RGD:9068941
chromosome 13q14 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acod1 aconitate decarboxylase 1 JBrowse link NW_004936511 4,322,198 4,326,562 RGD:9068941
G Alg11 ALG11 alpha-1,2-mannosyltransferase JBrowse link NW_004936565 4,763,894 4,775,360 RGD:9068941
G Arl11 ADP ribosylation factor like GTPase 11 JBrowse link NW_004936565 2,686,783 2,687,377 RGD:9068941
G Atp7b ATPase copper transporting beta JBrowse link NW_004936565 4,694,294 4,763,661 RGD:9068941
G Bora BORA aurora kinase A activator JBrowse link NW_004936511 8,107,476 8,134,677 RGD:9068941
G Cab39l calcium binding protein 39 like JBrowse link NW_004936565 2,415,225 2,536,311 RGD:9068941
G Cdadc1 cytidine and dCMP deaminase domain containing 1 JBrowse link NW_004936565 2,336,613 2,395,816 RGD:9068941
G Ckap2 cytoskeleton associated protein 2 JBrowse link NW_004936565 4,872,142 4,896,449 RGD:9068941
G Cln5 CLN5 intracellular trafficking protein JBrowse link NW_004936511 4,283,016 4,291,968 RGD:9068941
G Cnmd chondromodulin JBrowse link NW_004936667 599,703 624,821 RGD:9068941
G Commd6 COMM domain containing 6 JBrowse link NW_004936511 5,591,851 5,596,998 RGD:9068941
G Cysltr2 cysteinyl leukotriene receptor 2 JBrowse link NW_004936565 1,917,970 1,919,027 RGD:9068941
G Dach1 dachshund family transcription factor 1 JBrowse link NW_004936511 8,899,245 9,253,024 RGD:9068941
G Diaph3 diaphanous related formin 3 JBrowse link NW_004936705 1,381,025 1,833,890 RGD:9068941
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease JBrowse link NW_004936511 8,082,909 8,105,203 RGD:9068941
G Dleu7 deleted in lymphocytic leukemia 7 JBrowse link NW_004936565 3,706,566 3,722,689 RGD:9068941
G Ebpl EBP like JBrowse link NW_004936565 2,706,788 2,731,453 RGD:9068941
G Ednrb endothelin receptor type B JBrowse link NW_004936511 3,446,864 3,478,434 RGD:9068941
G Fam124a family with sequence similarity 124 member A JBrowse link NW_004936565 4,058,280 4,106,803 RGD:9068941
G Fbxl3 F-box and leucine rich repeat protein 3 JBrowse link NW_004936511 4,259,066 4,280,501 RGD:9068941
G Fndc3a fibronectin type III domain containing 3A JBrowse link NW_004936565 2,154,672 2,312,670 RGD:9068941
G Ints6 integrator complex subunit 6 JBrowse link NW_004936565 4,198,659 4,282,443 RGD:9068941
G Itm2b integral membrane protein 2B JBrowse link NW_004936565 1,535,570 1,557,667 RGD:9068941
G Kcnrg potassium channel regulator JBrowse link NW_004936565 2,991,568 2,997,592 RGD:9068941
G Kctd12 potassium channel tetramerization domain containing 12 JBrowse link NW_004936511 4,389,558 4,395,630 RGD:9068941
G Klf12 Kruppel like factor 12 JBrowse link NW_004936511 6,992,131 7,292,484 RGD:9068941
G Klf5 Kruppel like factor 5 JBrowse link NW_004936511 7,806,714 7,824,833 RGD:9068941
G Klhl1 kelch like family member 1 JBrowse link NW_004936511 10,511,200 10,879,121 RGD:9068941
G Kpna3 karyopherin subunit alpha 3 JBrowse link NW_004936565 2,738,003 2,775,814 RGD:9068941
G Lmo7 LIM domain 7 JBrowse link NW_004936511 5,292,737 5,501,374 RGD:9068941
G LOC101971599 tudor domain-containing protein 3 JBrowse link NW_004936511 11,258,898 11,348,522 RGD:9068941
G LOC101978403 histone-lysine N-methyltransferase SETDB2 JBrowse link NW_004936565 2,536,623 2,607,824 RGD:9068941
G Lpar6 lysophosphatidic acid receptor 6 JBrowse link NW_004936565 1,688,218 1,689,876 RGD:9068941
G Med4 mediator complex subunit 4 JBrowse link NW_004936565 1,397,434 1,414,674 RGD:9068941
G Mlnr motilin receptor JBrowse link NW_004936565 2,321,799 2,326,871 RGD:9068941
G Mycbp2 MYC binding protein 2 JBrowse link NW_004936511 3,977,950 4,248,959 RGD:9068941
G Mzt1 mitotic spindle organizing protein 1 JBrowse link NW_004936511 8,134,607 8,149,923 RGD:9068941
G Ndfip2 Nedd4 family interacting protein 2 JBrowse link NW_004936511 2,063,630 2,123,214 RGD:9068941
G Nek3 NIMA related kinase 3 JBrowse link NW_004936565 4,840,416 4,863,349 RGD:9068941
G Nek5 NIMA related kinase 5 JBrowse link NW_004936565 4,779,843 4,836,093 RGD:9068941
G Nudt15 nudix hydrolase 15 JBrowse link NW_004936565 1,380,981 1,389,908 RGD:9068941
G Obi1 ORC ubiquitin ligase 1 JBrowse link NW_004936511 2,800,466 2,847,896 RGD:9068941
G Olfm4 olfactomedin 4 JBrowse link NW_004936667 905,556 923,105 RGD:9068941
G Pcdh17 protocadherin 17 JBrowse link NW_004936820 764,016 860,325 RGD:9068941
G Pcdh20 protocadherin 20 JBrowse link NW_004936705 326,349 332,242 RGD:9068941
G Pcdh8 protocadherin 8 JBrowse link NW_004936667 716,802 721,441 RGD:9068941
G Pcdh9 protocadherin 9 JBrowse link NW_004936553 424,425 971,388 RGD:9068941
G Pibf1 progesterone immunomodulatory binding factor 1 JBrowse link NW_004936511 7,860,552 8,082,850 RGD:9068941
G Pou4f1 POU class 4 homeobox 1 JBrowse link NW_004936511 2,857,017 2,859,705 RGD:9068941
G Rb1 RB transcriptional corepressor 1 JBrowse link NW_004936565 1,596,227 1,746,706 RGD:9068941
G Rbm26 RNA binding motif protein 26 JBrowse link NW_004936511 2,175,192 2,252,955 RGD:9068941
G Rcbtb1 RCC1 and BTB domain containing protein 1 JBrowse link NW_004936565 2,608,788 2,649,992 RGD:9068941
G Rcbtb2 RCC1 and BTB domain containing protein 2 JBrowse link NW_004936565 1,750,565 1,789,779 RGD:9068941
G Rnaseh2b ribonuclease H2 subunit B JBrowse link NW_004936565 3,791,305 3,839,991 RGD:9068941
G Scel sciellin JBrowse link NW_004936511 3,696,150 3,794,031 RGD:9068941
G Serpine3 serpin family E member 3 JBrowse link NW_004936565 4,167,734 4,198,573 RGD:9068941
G Slain1 SLAIN motif family member 1 JBrowse link NW_004936511 3,615,251 3,671,429 RGD:9068941
G Slitrk1 SLIT and NTRK like family member 1 JBrowse link NW_004936696 1,447,644 1,452,612 RGD:9068941
G Slitrk6 SLIT and NTRK like family member 6 JBrowse link NW_004936866 412,719 419,381 RGD:9068941
G Spry2 sprouty RTK signaling antagonist 2 JBrowse link NW_004936511 1,452,421 1,458,031 RGD:9068941
G Spryd7 SPRY domain containing 7 JBrowse link NW_004936565 2,911,523 2,939,151 RGD:9068941
G Sucla2 succinate-CoA ligase ADP-forming beta subunit JBrowse link NW_004936565 1,313,150 1,355,693 RGD:9068941
G Sugt1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone JBrowse link NW_004936667 556,555 588,585 RGD:9068941
G Tbc1d4 TBC1 domain family member 4 JBrowse link NW_004936511 5,789,683 5,858,930 RGD:9068941
G Thsd1 thrombospondin type 1 domain containing 1 JBrowse link NW_004936565 4,925,400 4,952,210 RGD:9068941
G Trim13 tripartite motif containing 13 JBrowse link NW_004936565 2,976,681 2,989,036 RGD:9068941
G Uchl3 ubiquitin C-terminal hydrolase L3 JBrowse link NW_004936511 5,524,425 5,581,156 RGD:9068941
G Vps36 vacuolar protein sorting 36 homolog JBrowse link NW_004936565 4,898,969 4,921,411 RGD:9068941
G Wdfy2 WD repeat and FYVE domain containing 2 JBrowse link NW_004936565 4,375,012 4,527,259 RGD:9068941
chromosome 17p13.3 duplication syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bhlha9 basic helix-loop-helix family member a9 JBrowse link NW_004936538 6,558,044 6,559,193 RGD:9068941
G Crk CRK proto-oncogene, adaptor protein JBrowse link NW_004936538 7,581,453 7,609,543 RGD:9068941
G LOC101976167 active breakpoint cluster region-related protein JBrowse link NW_004936538 6,674,595 6,819,511 RGD:9068941
G Trarg1 trafficking regulator of GLUT4 (SLC2A4) 1 JBrowse link NW_004936538 6,534,704 6,551,335 RGD:9068941
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon JBrowse link NW_004936538 7,518,283 7,558,458 RGD:9068941
Cohen syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vps13b vacuolar protein sorting 13 homolog B JBrowse link NW_004936470 43,281,905 43,952,523 RGD:7240710
RGD:9068941
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nalcn sodium leak channel, non-selective JBrowse link NW_004936472 9,502,054 9,789,714 RGD:7240710
RGD:9068941
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdk13 cyclin dependent kinase 13 JBrowse link NW_004936478 15,296,055 15,387,749 RGD:7240710
RGD:9068941
CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atn1 atrophin 1 JBrowse link NW_004936709 886,571 894,746 RGD:7240710
RGD:9068941
Desanto-Shinawi Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wac WW domain containing adaptor with coiled-coil JBrowse link NW_004936613 2,793,706 2,862,984 RGD:7240710
RGD:9068941
DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trrap transformation/transcription domain associated protein JBrowse link NW_004936750 1,245,926 1,360,226 RGD:7240710
RGD:9068941
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Irak1bp1 interleukin 1 receptor associated kinase 1 binding protein 1 JBrowse link NW_004936510 11,220,194 11,242,485 RGD:9068941
G Phip pleckstrin homology domain interacting protein JBrowse link NW_004936510 11,076,790 11,198,483 RGD:7240710
RGD:9068941
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gsx2 GS homeobox 2 JBrowse link NW_004936482 16,703,936 16,706,224 RGD:9068941
RGD:7240710
Dyskinesias, Seizures, and Intellectual Developmental Disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Deaf1 DEAF1 transcription factor JBrowse link NW_004936888 473,651 497,152 RGD:7240710
RGD:9068941
Forebrain Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrrc2 leucine rich repeat containing 2 JBrowse link NW_004936596 420,678 440,937 RGD:9068941
G Tdgf1 teratocarcinoma-derived growth factor 1 JBrowse link NW_004936596 451,483 453,892 RGD:9068941
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cux1 cut like homeobox 1 JBrowse link NW_004936543 1,482,606 1,781,294 RGD:7240710
RGD:9068941
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Znf148 zinc finger protein 148 JBrowse link NW_004936725 6,968 89,762 RGD:7240710
RGD:9068941
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dicer1 dicer 1, ribonuclease III JBrowse link NW_004936846 528,768 584,599 RGD:7240710
RGD:9068941
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gls glutaminase JBrowse link NW_004936506 7,237,099 7,314,011 RGD:7240710
RGD:9068941
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fto FTO alpha-ketoglutarate dependent dioxygenase JBrowse link NW_004936475 6,321,725 6,689,410 RGD:7240710
RGD:9068941
G Rpgrip1l RPGRIP1 like JBrowse link NW_004936475 6,219,187 6,321,612 RGD:9068941
hypermethioninemia due to adenosine kinase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adk adenosine kinase JBrowse link NW_004936521 4,560,078 5,023,780 RGD:7240710
RGD:9068941
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcn7 chloride voltage-gated channel 7 JBrowse link NW_004936694 2,444,321 2,467,734 RGD:7240710
RGD:9068941
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ebf3 EBF transcription factor 3 JBrowse link NW_004936486 16,978,048 17,092,209 RGD:7240710
RGD:9068941
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctbp1 C-terminal binding protein 1 JBrowse link NW_004936477 22,032,712 22,055,160 RGD:7240710
RGD:9068941
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nfe2l2 nuclear factor, erythroid 2 like 2 JBrowse link NW_004936509 6,589,967 6,621,171 RGD:7240710
RGD:9068941
Kat6a Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kat6a lysine acetyltransferase 6A JBrowse link NW_004936785 602,754 704,504 RGD:9068941
Keppen-Lubinsky Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnj6 potassium inwardly rectifying channel subfamily J member 6 JBrowse link NW_004936500 5,002,668 5,164,511 RGD:7240710
RGD:9068941
Lamb-Shaffer Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox5 SRY-box transcription factor 5 JBrowse link NW_004936548 3,213,305 3,599,876 RGD:7240710
RGD:9068941
LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdk5 cyclin dependent kinase 5 JBrowse link NW_004936527 6,478,934 6,483,848 RGD:7240710
RGD:9068941
Loucks-Innes Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dph1 diphthamide biosynthesis 1 JBrowse link NW_004936538 8,100,977 8,110,704 RGD:7240710
RGD:9068941
Luscan-Lumish syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Setd2 SET domain containing 2, histone lysine methyltransferase JBrowse link NW_004936596 795,940 898,823 RGD:7240710
RGD:9068941
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcna4 potassium voltage-gated channel subfamily A member 4 JBrowse link NW_004936533 7,588,965 7,596,467 RGD:7240710
RGD:9068941
microcephaly, seizures, and developmental delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link NW_004936664 3,649,020 3,656,545 RGD:7240710
RGD:9068941
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gfer growth factor, augmenter of liver regeneration JBrowse link NW_004936694 2,051,362 2,053,812 RGD:7240710
RGD:9068941
G Ryr1 ryanodine receptor 1 JBrowse link NW_004936801 1,185,615 1,298,416 RGD:9068941
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ints8 integrator complex subunit 8 JBrowse link NW_004936544 7,784,093 7,839,646 RGD:7240710
RGD:9068941
Obesity, Hyperphagia, and Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ntrk2 neurotrophic receptor tyrosine kinase 2 JBrowse link NW_004936680 267,850 621,467 RGD:7240710
RGD:9068941
Ogden syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit JBrowse link NW_004936809 812,454 817,226 RGD:7240710
RGD:9068941
Oliver-McFarlane syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla6 patatin like phospholipase domain containing 6 JBrowse link NW_004936588 4,608,856 4,632,198 RGD:7240710
RGD:9068941
Osteosclerotic Metaphyseal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrrk1 leucine rich repeat kinase 1 JBrowse link NW_004936483 2,771,939 2,922,793 RGD:9068941
Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nedd4l NEDD4 like E3 ubiquitin protein ligase JBrowse link NW_004936497 6,106,284 6,318,339 RGD:9068941
Pierpont syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbl1xr1 TBL1X receptor 1 JBrowse link NW_004936566 5,721,541 5,861,838 RGD:7240710
RGD:9068941
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pi4ka phosphatidylinositol 4-kinase alpha JBrowse link NW_004936619 2,240,641 2,377,088 RGD:7240710
RGD:9068941
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Qars1 glutaminyl-tRNA synthetase 1 JBrowse link NW_004936529 802,753 810,270 RGD:7240710
RGD:9068941
pseudo-TORCH syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ocln occludin JBrowse link NW_004936480 99,516 152,834 RGD:7240710
RGD:9068941
Pseudo-TORCH Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Usp18 ubiquitin specific peptidase 18 JBrowse link NW_004936807 1,090,928 1,116,166 RGD:7240710
RGD:9068941
Rajab Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Farsb phenylalanyl-tRNA synthetase subunit beta JBrowse link NW_004936569 4,524,525 4,604,539 RGD:7240710
RGD:9068941
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arcn1 archain 1 JBrowse link NW_004936542 3,605,553 3,634,889 RGD:7240710
RGD:9068941
Short Stature, Developmental Delay, and Congenital Heart Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tkt transketolase JBrowse link NW_004936473 3,950,846 3,978,778 RGD:7240710
RGD:9068941
SIDDIQI SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fitm2 fat storage inducing transmembrane protein 2 JBrowse link NW_004936530 2,491,924 2,498,579 RGD:7240710
RGD:9068941
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trnt1 tRNA nucleotidyl transferase 1 JBrowse link NW_004936577 2,814,464 2,834,068 RGD:7240710
RGD:9068941
succinic semialdehyde dehydrogenase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh5a1 aldehyde dehydrogenase 5 family member A1 JBrowse link NW_004936671 843,577 865,798 RGD:7240710
RGD:9068941
G Gpld1 glycosylphosphatidylinositol specific phospholipase D1 JBrowse link NW_004936671 780,173 827,628 RGD:9068941
Ter Haar Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sh3pxd2b SH3 and PX domains 2B JBrowse link NW_004936609 2,934,814 2,975,111 RGD:7240710
RGD:9068941
Turnpenny-Fry Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcgf2 polycomb group ring finger 2 JBrowse link NW_004936490 14,139,125 14,150,377 RGD:7240710
RGD:9068941
VERVERI-BRADY SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Qrich1 glutamine rich 1 JBrowse link NW_004936529 753,842 802,405 RGD:7240710
RGD:9068941
WEISS-KRUSZKA SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Znf462 zinc finger protein 462 JBrowse link NW_004936559 5,510,933 5,644,727 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11418
    Developmental Diseases 7970
      Neurodevelopmental Disorders 3808
        Developmental Disabilities 363
          3MC syndrome 3 3
          AGAT deficiency 9
          Abuse Dwarfism Syndrome 0
          Al Gazali Sabrinathan Nair Syndrome 0
          Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development 1
          Bagatelle Cassidy syndrome 0
          Bainbridge-Ropers Syndrome 1
          Beaulieu-Boycott-Innes Syndrome 1
          Bosch-Boonstra-Schaaf Optic Atrophy Syndrome 4
          Brachycephaly, Trichomegaly, and Developmental Delay 1
          CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES 1
          CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 1
          CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES 1
          Cerebellar Atrophy with Seizures and Variable Developmental Delay 2
          Cerebellar Hypoplasia + 13
          Cerebellofaciodental Syndrome 1
          Chitayat Moore Del Bigio Syndrome 0
          Chitty Hall Webb Syndrome 0
          Chondrodysplasia, Megarbane-Dagher-Melki Type 1
          Cohen syndrome 1
          Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder 1
          Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 0
          DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM 1
          DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 2
          Der Kaloustian Mcintosh Silver Syndrome 0
          Desanto-Shinawi Syndrome 1
          Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 1
          Dyskinesias, Seizures, and Intellectual Developmental Disorder 1
          Forebrain Defects 2
          Forsythe-Wakeling Syndrome 0
          Fragile Site 16p12 0
          GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT 1
          GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES 1
          Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 1
          Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine 1
          Growth Retardation, Developmental Delay, Coarse Facies, and Early Death 2
          Grubben de Cock Borghgraef Syndrome 0
          HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT 1
          HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 1
          HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME 1
          Heyn-Sproul-Jackson Syndrome 0
          IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 1
          Kat6a Syndrome 1
          Keppen-Lubinsky Syndrome 1
          Lamb-Shaffer Syndrome 1
          Loucks-Innes Syndrome 1
          Luscan-Lumish syndrome 1
          Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum 1
          Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 0
          Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 0
          Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay 2
          Non-Lissencephalic Cortical Dysplasia 0
          Obesity, Hyperphagia, and Developmental Delay 1
          Ogden syndrome 1
          Oliver-McFarlane syndrome 1
          Osteosclerotic Metaphyseal Dysplasia 1
          Partington Anderson Syndrome 0
          Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay 1
          Pierpont syndrome 1
          Pseudo-TORCH Syndrome + 2
          Rajab Syndrome 1
          Refsum Disease with Increased Pipecolic Acidemia 0
          Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay 1
          Roifman-Chitayat Syndrome 0
          SIDDIQI SYNDROME 1
          SNIJDERS BLOK-FISHER SYNDROME 0
          Short Stature, Developmental Delay, and Congenital Heart Defects 1
          Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 0
          Ter Haar Syndrome 1
          Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 0
          Turnpenny-Fry Syndrome 1
          Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 0
          VERVERI-BRADY SYNDROME 1
          WEISS-KRUSZKA SYNDROME 1
          chromosome 13q14 deletion syndrome 69
          chromosome 17p13.3 duplication syndrome 5
          chromosome 3q29 microdeletion syndrome 0
          chromosome Xp11.23-p11.22 duplication syndrome 0
          hypermethioninemia due to adenosine kinase deficiency 1
          microcephaly, seizures, and developmental delay 1
          sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 1
          succinic semialdehyde dehydrogenase deficiency 2
Path 2
Term Annotations click to browse term
  disease 11418
    disease of anatomical entity 11088
      nervous system disease 8922
        central nervous system disease 7396
          brain disease 6809
            disease of mental health 4941
              Neurodevelopmental Disorders 3808
                Developmental Disabilities 363
                  3MC syndrome 3 3
                  AGAT deficiency 9
                  Abuse Dwarfism Syndrome 0
                  Al Gazali Sabrinathan Nair Syndrome 0
                  Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development 1
                  Bagatelle Cassidy syndrome 0
                  Bainbridge-Ropers Syndrome 1
                  Beaulieu-Boycott-Innes Syndrome 1
                  Bosch-Boonstra-Schaaf Optic Atrophy Syndrome 4
                  Brachycephaly, Trichomegaly, and Developmental Delay 1
                  CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES 1
                  CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 1
                  CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES 1
                  Cerebellar Atrophy with Seizures and Variable Developmental Delay 2
                  Cerebellar Hypoplasia + 13
                  Cerebellofaciodental Syndrome 1
                  Chitayat Moore Del Bigio Syndrome 0
                  Chitty Hall Webb Syndrome 0
                  Chondrodysplasia, Megarbane-Dagher-Melki Type 1
                  Cohen syndrome 1
                  Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder 1
                  Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 0
                  DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM 1
                  DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 2
                  Der Kaloustian Mcintosh Silver Syndrome 0
                  Desanto-Shinawi Syndrome 1
                  Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 1
                  Dyskinesias, Seizures, and Intellectual Developmental Disorder 1
                  Forebrain Defects 2
                  Forsythe-Wakeling Syndrome 0
                  Fragile Site 16p12 0
                  GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT 1
                  GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES 1
                  Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 1
                  Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine 1
                  Growth Retardation, Developmental Delay, Coarse Facies, and Early Death 2
                  Grubben de Cock Borghgraef Syndrome 0
                  HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT 1
                  HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 1
                  HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME 1
                  Heyn-Sproul-Jackson Syndrome 0
                  IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 1
                  Kat6a Syndrome 1
                  Keppen-Lubinsky Syndrome 1
                  Lamb-Shaffer Syndrome 1
                  Loucks-Innes Syndrome 1
                  Luscan-Lumish syndrome 1
                  Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum 1
                  Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 0
                  Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 0
                  Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay 2
                  Non-Lissencephalic Cortical Dysplasia 0
                  Obesity, Hyperphagia, and Developmental Delay 1
                  Ogden syndrome 1
                  Oliver-McFarlane syndrome 1
                  Osteosclerotic Metaphyseal Dysplasia 1
                  Partington Anderson Syndrome 0
                  Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay 1
                  Pierpont syndrome 1
                  Pseudo-TORCH Syndrome + 2
                  Rajab Syndrome 1
                  Refsum Disease with Increased Pipecolic Acidemia 0
                  Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay 1
                  Roifman-Chitayat Syndrome 0
                  SIDDIQI SYNDROME 1
                  SNIJDERS BLOK-FISHER SYNDROME 0
                  Short Stature, Developmental Delay, and Congenital Heart Defects 1
                  Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 0
                  Ter Haar Syndrome 1
                  Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 0
                  Turnpenny-Fry Syndrome 1
                  Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 0
                  VERVERI-BRADY SYNDROME 1
                  WEISS-KRUSZKA SYNDROME 1
                  chromosome 13q14 deletion syndrome 69
                  chromosome 17p13.3 duplication syndrome 5
                  chromosome 3q29 microdeletion syndrome 0
                  chromosome Xp11.23-p11.22 duplication syndrome 0
                  hypermethioninemia due to adenosine kinase deficiency 1
                  microcephaly, seizures, and developmental delay 1
                  sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 1
                  succinic semialdehyde dehydrogenase deficiency 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.