ONTOLOGY REPORT - ANNOTATIONS


Term:Digestive System Abnormalities
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Accession:DOID:9001683 term browser browse the term
Definition:Congenital structural abnormalities of the DIGESTIVE SYSTEM.
Synonyms:exact_synonym: Digestive System Abnormality
 primary_id: MESH:D004065;   RDO:0000418
For additional species annotation, visit the Alliance of Genome Resources.


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Anorectal Malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:9068408
RGD:12798571
RGD:1599527
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:11052641
G Gli2 GLI family zinc finger 2 JBrowse link 13 34,829,021 35,049,172 RGD:12798571
RGD:12802352
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:12743602
G Hoxa13 homeo box A13 RGD:1599527
RGD:12743602
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:1599527
RGD:12743602
G Pcsk5 proprotein convertase subtilisin/kexin type 5 JBrowse link 1 236,031,988 236,313,858 RGD:11556204
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:1599527
RGD:12798571
RGD:12798569
Barrett's esophagus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ascc1 activating signal cointegrator 1 complex subunit 1 JBrowse link 20 29,558,330 29,648,899 RGD:7240710
RGD:8554872
G B3gat2 beta-1,3-glucuronyltransferase 2 JBrowse link 9 29,984,077 30,068,649 RGD:11552890
G Becn1 beclin 1 JBrowse link 10 89,209,944 89,225,297 RGD:11561943
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:8699511
G Cdh13 cadherin 13 JBrowse link 19 50,848,793 51,971,618 RGD:11554173
G Cdkn1a cyclin-dependent kinase inhibitor 1A JBrowse link 20 6,348,422 6,358,864 RGD:8662398
G Cdx2 caudal type homeo box 2 JBrowse link 12 9,464,026 9,470,565 RGD:7349348
G Cthrc1 collagen triple helix repeat containing 1 JBrowse link 7 77,966,722 77,977,004 RGD:7240710
RGD:8554872
G Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 JBrowse link 1 256,382,861 256,386,729 RGD:11554173
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:12903968
G Foxp1 forkhead box P1 JBrowse link 4 131,362,178 131,963,466 RGD:11560527
G Gast gastrin JBrowse link 10 88,245,532 88,248,485 RGD:11554173
G Gata6 GATA binding protein 6 JBrowse link 18 2,415,821 2,447,087 RGD:13208870
G Hgf hepatocyte growth factor JBrowse link 4 15,435,460 15,505,377 RGD:11554173
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12743582
G LOC103694540 zinc finger Y-chromosomal protein 2 JBrowse link Y 182,497 222,212 RGD:11552890
G Mcl1 MCL1 apoptosis regulator, BCL2 family member JBrowse link 2 197,786,212 197,788,992 RGD:11554173
G Mki67 marker of proliferation Ki-67 JBrowse link 1 207,993,895 208,020,454 RGD:6483521
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:7207058
G Mmp12 matrix metallopeptidase 12 JBrowse link 8 5,594,717 5,616,494 RGD:7207058
G Msr1 macrophage scavenger receptor 1 JBrowse link 16 56,817,714 56,900,025 RGD:7240710
RGD:8554872
G Muc2 mucin 2, oligomeric mucus/gel-forming JBrowse link 1 214,663,929 214,693,197 RGD:7349348
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 JBrowse link 11 65,022,100 65,058,546 RGD:11554173
G Pparg peroxisome proliferator-activated receptor gamma JBrowse link 4 147,274,055 147,399,383 RGD:11554173
G Ptges prostaglandin E synthase JBrowse link 3 9,727,408 9,738,752 RGD:2300107
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link 13 67,351,230 67,356,920 RGD:1642603
RGD:13207438
RGD:11554173
RGD:7349348
G Rela RELA proto-oncogene, NF-kB subunit JBrowse link 1 220,992,770 221,003,249 RGD:11554173
G Rprm reprimo, TP53 dependent G2 arrest mediator homolog JBrowse link 3 39,595,301 39,596,718 RGD:11554173
G Slc9a1 solute carrier family 9 member A1 JBrowse link 5 151,573,122 151,626,360 RGD:11554173
G Sst somatostatin JBrowse link 11 80,358,172 80,359,449 RGD:11554173
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:11055189
biliary atresia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link 11 81,330,845 81,344,488 RGD:5686894
G Cd14 CD14 molecule JBrowse link 18 29,560,341 29,562,290 RGD:7184431
G Dlk1 delta like non-canonical Notch ligand 1 JBrowse link 6 133,576,513 133,583,751 RGD:1625622
G Gli2 GLI family zinc finger 2 JBrowse link 13 34,829,021 35,049,172 RGD:12802349
G Hamp hepcidin antimicrobial peptide JBrowse link 1 89,368,021 89,369,960 RGD:11554173
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:12832754
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:12802349
G Sox17 SRY box 17 JBrowse link 5 14,890,318 14,895,907 RGD:13592920
G Spint1 serine peptidase inhibitor, Kunitz type 1 JBrowse link 3 111,049,132 111,061,991 RGD:10043111
G Spint2 serine peptidase inhibitor, Kunitz type, 2 JBrowse link 1 87,199,373 87,221,826 RGD:10043111
G Spp1 secreted phosphoprotein 1 JBrowse link 14 6,673,686 6,679,965 RGD:1581370
Burn-Mckeown Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aadac arylacetamide deacetylase JBrowse link 2 150,146,234 150,157,480 RGD:8554872
G Adnp2 ADNP homeobox 2 JBrowse link 18 76,637,415 76,661,186 RGD:8554872
G Atp9b ATPase phospholipid transporting 9B (putative) JBrowse link 18 77,343,551 77,535,608 RGD:8554872
G Ctdp1 CTD phosphatase subunit 1 JBrowse link 18 76,922,913 76,985,095 RGD:8554872
G Galr1 galanin receptor 1 JBrowse link 18 79,243,009 79,258,570 RGD:8554872
G Hsbp1l1 heat shock factor binding protein 1-like 1 JBrowse link 18 76,748,067 76,754,642 RGD:8554872
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 JBrowse link 18 76,808,294 76,880,742 RGD:8554872
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 JBrowse link 1 216,293,087 216,630,339 RGD:8554872
G Mbp myelin basic protein JBrowse link 18 79,326,738 79,437,310 RGD:8554872
G Nfatc1 nuclear factor of activated T-cells 1 JBrowse link 18 77,203,517 77,322,690 RGD:8554872
G Pard6g par-6 family cell polarity regulator gamma JBrowse link 18 76,559,877 76,627,843 RGD:8554872
G Pqlc1 PQ loop repeat containing 1 JBrowse link 18 76,768,466 76,805,773 RGD:8554872
G Rbfa ribosome binding factor A JBrowse link 18 76,704,223 76,714,387 RGD:8554872
G Sall3 spalt-like transcription factor 3 JBrowse link 18 77,572,200 77,591,710 RGD:8554872
G Tmem43 transmembrane protein 43 JBrowse link 4 123,118,468 123,133,610 RGD:8554872
G Txnl4a thioredoxin-like 4A JBrowse link 18 76,725,221 76,740,673 RGD:8554872
RGD:7240710
G Xpc XPC complex subunit, DNA damage recognition and repair factor JBrowse link 4 123,134,457 123,161,985 RGD:8554872
G Zfp236 zinc finger protein 236 JBrowse link 18 79,447,384 79,543,271 RGD:8554872
G Zfp516 zinc finger protein 516 JBrowse link 18 79,768,387 79,857,909 RGD:8554872
Caroli disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Angpt2 angiopoietin 2 JBrowse link 16 75,966,480 76,016,147 RGD:2314213
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:11528287
choledochal cyst term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aqp1 aquaporin 1 (Colton blood group) JBrowse link 4 85,551,503 85,563,683 RGD:11554173
G Cftr cystic fibrosis transmembrane conductance regulator JBrowse link 4 42,693,263 42,860,679 RGD:11554173
G Pkhd1 PKHD1, fibrocystin/polyductin JBrowse link 9 26,164,969 26,736,704 RGD:11554173
G Sct secretin JBrowse link 1 214,264,865 214,277,437 RGD:11554173
G Slc4a2 solute carrier family 4 member 2 JBrowse link 4 7,264,677 7,282,355 RGD:11554173
Currarino Triad term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc5 ATP binding cassette subfamily C member 5 JBrowse link 11 84,395,982 84,490,215 RGD:8554872
G Abcf3 ATP binding cassette subfamily F member 3 JBrowse link 11 84,026,206 84,037,938 RGD:8554872
G Actl6a actin-like 6A JBrowse link 2 119,112,776 119,128,870 RGD:8554872
G Alg3 ALG3, alpha-1,3- mannosyltransferase JBrowse link 11 83,985,484 83,991,706 RGD:8554872
G Ap2m1 adaptor related protein complex 2 subunit mu 1 JBrowse link 11 84,041,184 84,047,542 RGD:8554872
G Atp11b ATPase phospholipid transporting 11B (putative) JBrowse link 2 122,337,757 122,445,090 RGD:8554872
G B3gnt5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 JBrowse link 11 84,919,055 84,931,160 RGD:8554872
G Camk2n2 calcium/calmodulin-dependent protein kinase II inhibitor 2 JBrowse link 11 83,975,430 83,976,557 RGD:8554872
G Ccdc39 coiled-coil domain containing 39 JBrowse link 2 120,278,605 120,367,829 RGD:8554872
G Chrd chordin JBrowse link 11 83,858,503 83,867,543 RGD:8554872
G Clcn2 chloride voltage-gated channel 2 JBrowse link 11 82,862,664 82,876,165 RGD:8554872
G Dcun1d1 defective in cullin neddylation 1 domain containing 1 JBrowse link 2 122,476,173 122,527,153 RGD:8554872
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 JBrowse link 2 120,503,093 120,531,782 RGD:8554872
G Dvl3 dishevelled segment polarity protein 3 JBrowse link 11 84,051,177 84,068,479 RGD:8554872
G Ece2 endothelin-converting enzyme 2 JBrowse link 11 83,948,896 83,985,429 RGD:8554872
G Eef1akmt4 EEF1A lysine methyltransferase 4 JBrowse link 11 83,977,841 83,985,429 RGD:8554872
G Ehhadh enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase JBrowse link 11 82,945,104 82,978,364 RGD:8554872
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon JBrowse link 11 84,080,273 84,090,259 RGD:8554872
G Eif4g1 eukaryotic translation initiation factor 4 gamma, 1 JBrowse link 11 83,907,659 83,927,683 RGD:8554872
G Ephb3 Eph receptor B3 JBrowse link 11 83,527,960 83,546,742 RGD:8554872
G Fam131a family with sequence similarity 131, member A JBrowse link 11 83,897,330 83,907,292 RGD:8554872
G Fxr1 FMR1 autosomal homolog 1 JBrowse link 2 120,529,716 120,570,356 RGD:8554872
G Gnb4 G protein subunit beta 4 JBrowse link 2 118,978,965 119,007,877 RGD:8554872
G Igf2bp2 insulin-like growth factor 2 mRNA binding protein 2 JBrowse link 11 82,466,071 82,621,105 RGD:8554872
G Kcnmb2 potassium calcium-activated channel subfamily M regulatory beta subunit 2 JBrowse link 2 118,276,298 118,585,321 RGD:8554872
G Kcnmb3 potassium calcium-activated channel subfamily M regulatory beta subunit 3 JBrowse link 2 118,868,225 118,882,562 RGD:8554872
G Klhl24 kelch-like family member 24 JBrowse link 11 84,613,101 84,643,674 RGD:8554872
G Klhl6 kelch-like family member 6 JBrowse link 11 84,745,958 84,785,315 RGD:8554872
G Lamp3 lysosomal-associated membrane protein 3 JBrowse link 11 84,930,965 85,000,694 RGD:8554872
G Liph lipase H JBrowse link 11 82,680,167 82,732,145 RGD:8554872
G Map3k13 mitogen-activated protein kinase kinase kinase 13 JBrowse link 11 82,744,391 82,938,357 RGD:8554872
G Map6d1 MAP6 domain containing 1 JBrowse link 11 84,321,078 84,327,307 RGD:8554872
G Mccc1 methylcrotonoyl-CoA carboxylase 1 JBrowse link 2 122,550,777 122,690,540 RGD:8554872
G Mfn1 mitofusin 1 JBrowse link 2 118,929,738 118,971,689 RGD:8554872
G Mir1224 microRNA 1224 JBrowse link 11 83,992,628 83,992,712 RGD:8554872
G Mnx1 motor neuron and pancreas homeobox 1 JBrowse link 4 2,376,350 2,381,308 RGD:7240710
RGD:8554872
G Mrpl47 mitochondrial ribosomal protein L47 JBrowse link 2 119,128,311 119,139,451 RGD:8554872
G Ndufb5 NADH:ubiquinone oxidoreductase subunit B5 JBrowse link 2 119,139,717 119,153,753 RGD:8554872
G Parl presenilin associated, rhomboid-like JBrowse link 11 84,517,368 84,544,463 RGD:8554872
G Pcsk5 proprotein convertase subtilisin/kexin type 5 JBrowse link 1 236,031,988 236,313,858 RGD:11554173
G Pex5l peroxisomal biogenesis factor 5-like JBrowse link 2 119,330,330 119,405,809 RGD:8554872
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
G Polr2h RNA polymerase II subunit H JBrowse link 11 83,877,760 83,882,208 RGD:8554872
G Psmd2 proteasome 26S subunit, non-ATPase 2 JBrowse link 11 83,934,098 83,944,725 RGD:8554872
G RGD1562339 RGD1562339 JBrowse link 11 83,048,441 83,098,649 RGD:8554872
G Senp2 SUMO specific peptidase 2 JBrowse link 11 82,627,973 82,664,702 RGD:8554872
G Sox2 SRY box 2 JBrowse link 2 121,165,137 121,167,545 RGD:8554872
G Thpo thrombopoietin JBrowse link 11 82,845,676 82,853,439 RGD:8554872
G Tmem41a transmembrane protein 41a JBrowse link 11 82,734,525 82,741,177 RGD:8554872
G Ttc14 tetratricopeptide repeat domain 14 JBrowse link 2 120,266,883 120,277,505 RGD:8554872
G Usp13 ubiquitin specific peptidase 13 JBrowse link 2 119,197,153 119,317,507 RGD:8554872
G Vps8 VPS8 subunit of CORVET complex JBrowse link 11 83,104,912 83,323,606 RGD:8554872
G Vwa5b2 von Willebrand factor A domain containing 5B2 JBrowse link 11 83,991,793 84,008,946 RGD:8554872
G Yeats2 YEATS domain containing 2 JBrowse link 11 84,330,064 84,595,296 RGD:8554872
G Zfp639 zinc finger protein 639 JBrowse link 2 118,906,479 118,917,491 RGD:8554872
G Zmat3 zinc finger, matrin type 3 JBrowse link 2 118,715,229 118,746,109 RGD:8554872
duodenal atresia 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:14367881
RGD:14367883
G Cftr cystic fibrosis transmembrane conductance regulator JBrowse link 4 42,693,263 42,860,679 RGD:8554872
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:12801491
G Gucy2c guanylate cyclase 2C JBrowse link 4 170,659,993 170,740,274 RGD:8554872
G LOC500354 similar to C030030A07Rik protein JBrowse link 4 170,807,633 170,822,514 RGD:8554872
esophageal atresia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eftud2 elongation factor Tu GTP binding domain containing 2 JBrowse link 10 90,932,071 90,983,971 RGD:10045556
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:12792229
G Hoxc4 homeo box C4 JBrowse link 7 144,646,605 144,652,589 RGD:10402180
esophageal atresia/tracheoesophageal fistula term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gli2 GLI family zinc finger 2 JBrowse link 13 34,829,021 35,049,172 RGD:12801415
G Nog noggin JBrowse link 10 76,811,759 76,813,386 RGD:12801454
RGD:13592920
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:12801416
FG syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6ap2 ATPase H+ transporting accessory protein 2 JBrowse link X 11,137,889 11,164,854 RGD:8554872
G Bcor BCL6 co-repressor JBrowse link X 11,570,155 11,692,022 RGD:8554872
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:7240710
RGD:8554872
RGD:11576290
G Ddx3x DEAD-box helicase 3, X-linked JBrowse link X 10,400,363 10,414,010 RGD:8554872
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:7240710
RGD:8554872
RGD:11554173
G Gpr34 G protein-coupled receptor 34 JBrowse link X 10,022,986 10,043,504 RGD:8554872
G Gpr82 G protein-coupled receptor 82 JBrowse link X 9,992,832 10,001,036 RGD:8554872
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:7240710
RGD:8554872
RGD:12910952
RGD:12910948
RGD:11554173
G Med14 mediator complex subunit 14 JBrowse link X 10,964,035 11,082,403 RGD:8554872
G Mpc1l mitochondrial pyruvate carrier 1-like JBrowse link X 11,098,849 11,105,312 RGD:8554872
G Nyx nyctalopin JBrowse link X 10,197,547 10,218,583 RGD:8554872
G RGD1565685 similar to RIKEN cDNA 1810030O07 JBrowse link X 11,082,668 11,105,588 RGD:8554872
G Usp9x ubiquitin specific peptidase 9, X-linked JBrowse link X 10,510,033 10,660,555 RGD:8554872
Goldberg-Shprintzen syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif1bp KIF1 binding protein JBrowse link 20 32,191,731 32,211,295 RGD:8554872
RGD:7240710
RGD:11554173
G Ski SKI proto-oncogene JBrowse link 5 172,556,196 172,623,878 RGD:8554872
Hirschsprung Disease 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahnak AHNAK nucleoprotein JBrowse link 1 225,184,883 225,429,638 RGD:8554872
G Ccr9 C-C motif chemokine receptor 9 JBrowse link 8 132,827,325 132,842,130 RGD:8554872
G Cluh clustered mitochondria homolog JBrowse link 10 61,432,872 61,454,445 RGD:8554872
G Cntn5 contactin 5 JBrowse link 8 7,812,371 9,033,962 RGD:8554872
G Crebbp CREB binding protein JBrowse link 10 11,590,994 11,721,039 RGD:8554872
G Dennd3 DENN domain containing 3 JBrowse link 7 114,724,644 114,812,471 RGD:8554872
G Dpyd dihydropyrimidine dehydrogenase JBrowse link 2 221,823,692 222,694,627 RGD:8554872
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:8554872
G Fat3 FAT atypical cadherin 3 JBrowse link 8 14,417,039 15,011,596 RGD:8554872
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
G Gdnf glial cell derived neurotrophic factor JBrowse link 2 56,884,181 56,912,964 RGD:8554872
G Gfra1 GDNF family receptor alpha 1 JBrowse link 1 279,203,046 279,572,789 RGD:8554872
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:8554872
G Ihh Indian hedgehog signaling molecule JBrowse link 9 82,208,223 82,214,440 RGD:8554872
G Irak3 interleukin-1 receptor-associated kinase 3 JBrowse link 7 64,922,830 64,982,224 RGD:8554872
G Kdr kinase insert domain receptor JBrowse link 14 34,727,677 34,787,127 RGD:8554872
G Lrba LPS responsive beige-like anchor protein JBrowse link 2 185,590,983 186,110,491 RGD:8554872
G Lztfl1 leucine zipper transcription factor-like 1 JBrowse link 8 132,774,393 132,790,922 RGD:8554872
G Nav2 neuron navigator 2 JBrowse link 1 104,575,765 104,941,554 RGD:8554872
G Ncln nicalin JBrowse link 7 11,081,544 11,091,583 RGD:8554872
G Notch2 notch receptor 2 JBrowse link 2 200,187,184 200,320,403 RGD:8554872
G Nrp2 neuropilin 2 JBrowse link 9 69,496,875 69,609,802 RGD:8554872
G Ntf3 neurotrophin 3 JBrowse link 4 158,636,883 158,705,886 RGD:8554872
G Nup98 nucleoporin 98 JBrowse link 1 167,213,866 167,308,851 RGD:8554872
G Olr1376 olfactory receptor 1376 JBrowse link 10 12,673,136 12,674,077 RGD:8554872
G Pcdha1 protocadherin alpha 1 JBrowse link 18 29,951,094 30,215,896 RGD:8554872
G Pcdha10 protocadherin alpha 10 JBrowse link 18 30,010,918 30,215,896 RGD:8554872
G Pcdha11 protocadherin alpha 11 JBrowse link 18 30,017,918 30,215,896 RGD:8554872
G Pcdha12 protocadherin alpha 12 JBrowse link 18 30,023,828 30,215,896 RGD:8554872
G Pcdha13 protocadherin alpha 13 JBrowse link 18 30,036,887 30,215,897 RGD:8554872
G Pcdha2 protocadherin alpha 2 JBrowse link 18 29,960,072 30,215,896 RGD:8554872
G Pcdha3 protocadherin alpha 3 JBrowse link 18 29,966,245 30,215,896 RGD:8554872
G Pcdha4 protocadherin alpha 4 JBrowse link 18 29,950,217 30,215,901 RGD:8554872
G Pcdha5 protocadherin alpha 5 JBrowse link 18 29,980,268 30,215,897 RGD:8554872
G Pcdha6 protocadherin alpha 6 JBrowse link 18 29,987,206 30,215,896 RGD:8554872
G Pcdha7 protocadherin alpha 7 JBrowse link 18 29,993,361 30,215,896 RGD:8554872
G Pcdha8 protocadherin alpha 8 JBrowse link 18 29,999,290 30,215,896 RGD:8554872
G Pcdha9 protocadherin alpha 9 JBrowse link 18 30,004,565 30,215,897 RGD:8554872
G Pcdhac1 protocadherin alpha subfamily C, 1 JBrowse link 18 30,114,708 30,215,896 RGD:8554872
G Pcdhac2 protocadherin alpha subfamily C, 2 JBrowse link 18 30,172,740 30,215,896 RGD:8554872
G Pgrmc2 progesterone receptor membrane component 2 JBrowse link 2 127,986,106 128,002,005 RGD:8554872
G Plau plasminogen activator, urokinase JBrowse link 15 3,644,296 3,650,765 RGD:8554872
G Polr2f RNA polymerase II subunit F JBrowse link 7 120,380,543 120,392,214 RGD:8554872
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:8554872
G Ret ret proto-oncogene JBrowse link 4 150,202,170 150,249,196 RGD:8554872
G Sema3d semaphorin 3D JBrowse link 4 19,224,378 19,413,519 RGD:8554872
G Serpinf1 serpin family F member 1 JBrowse link 10 62,241,750 62,254,145 RGD:8554872
G Sox10 SRY box 10 JBrowse link 7 120,393,238 120,403,523 RGD:8554872
G Tbata thymus, brain and testes associated JBrowse link 20 30,786,239 30,804,354 RGD:8554872
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:8554872
G Thbs4 thrombospondin 4 JBrowse link 2 22,343,727 22,385,855 RGD:8554872
G Tsc2 TSC complex subunit 2 JBrowse link 10 13,962,006 13,996,684 RGD:8554872
G Zhx2 zinc fingers and homeoboxes 2 JBrowse link 7 97,559,653 97,707,872 RGD:8554872
Hirschsprung Disease Ganglioneuroblastoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phox2b paired-like homeobox 2b JBrowse link 14 42,711,169 42,718,707 RGD:8554872
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ece1 endothelin converting enzyme 1 JBrowse link 5 156,215,469 156,318,652 RGD:7240710
RGD:8554872
Hirschsprung's disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ache acetylcholinesterase JBrowse link 12 22,472,358 22,477,052 RGD:5509847
G Aebp2 AE binding protein 2 JBrowse link 4 174,799,378 174,863,260 RGD:13592920
G Axin2 axin 2 JBrowse link 10 97,212,483 97,238,824 RGD:8554872
G Cavin2 caveolae associated protein 2 JBrowse link 9 55,244,136 55,256,153 RGD:11554173
G Cd14 CD14 molecule JBrowse link 18 29,560,341 29,562,290 RGD:7193054
G Dpyd dihydropyrimidine dehydrogenase JBrowse link 2 221,823,692 222,694,627 RGD:8554872
G Dscam DS cell adhesion molecule JBrowse link 11 37,004,776 37,599,866 RGD:8554872
G Ece1 endothelin converting enzyme 1 JBrowse link 5 156,215,469 156,318,652 RGD:11554173
RGD:8554872
G Edn3 endothelin 3 JBrowse link 3 172,856,730 172,879,276 RGD:1601003
RGD:7240710
RGD:8554872
RGD:11554173
G Ednrb endothelin receptor type B JBrowse link 15 88,004,775 88,036,354 RGD:1601008
RGD:7240710
RGD:8554872
RGD:628516
RGD:11554173
RGD:1342447
G Ednrbsl endothelin receptor type B, spotting lethal RGD:6480217
G Erbb2 erb-b2 receptor tyrosine kinase 2 JBrowse link 10 86,367,596 86,391,728 RGD:734940
RGD:13592920
G Gdnf glial cell derived neurotrophic factor JBrowse link 2 56,884,181 56,912,964 RGD:8554872
RGD:7240710
RGD:11554173
G Gfra1 GDNF family receptor alpha 1 JBrowse link 1 279,203,046 279,572,789 RGD:6218967
RGD:13592920
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:12792222
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:12792222
G Hdac8 histone deacetylase 8 JBrowse link X 72,163,777 72,370,058 RGD:13208819
G Ihh Indian hedgehog signaling molecule JBrowse link 9 82,208,223 82,214,440 RGD:13592920
G Itgb1 integrin subunit beta 1 JBrowse link 19 61,677,512 61,725,537 RGD:13592920
G Kit KIT proto-oncogene receptor tyrosine kinase JBrowse link 14 35,072,131 35,149,638 RGD:12910727
RGD:12910747
G L1cam L1 cell adhesion molecule JBrowse link X 156,901,244 156,928,064 RGD:6483043
RGD:8554872
G Mir195 microRNA 195 JBrowse link 10 56,845,301 56,845,387 RGD:11554173
G Mir206 microRNA 206 JBrowse link 9 26,791,764 26,791,847 RGD:11554173
G Ngfr nerve growth factor receptor JBrowse link 10 83,389,828 83,408,061 RGD:5508387
G Nrg1 neuregulin 1 JBrowse link 16 62,969,573 64,065,063 RGD:11554173
G Nrg3 neuregulin 3 JBrowse link 16 15,763,031 16,932,208 RGD:8554872
G Nrtn neurturin JBrowse link 9 10,299,881 10,306,599 RGD:1600267
G Ntf3 neurotrophin 3 JBrowse link 4 158,636,883 158,705,886 RGD:8554872
G Ntrk1 neurotrophic receptor tyrosine kinase 1 JBrowse link 2 187,143,568 187,160,373 RGD:5684546
G Phox2b paired-like homeobox 2b JBrowse link 14 42,711,169 42,718,707 RGD:8554872
G Polr2f RNA polymerase II subunit F JBrowse link 7 120,380,543 120,392,214 RGD:8554872
G Prokr1 prokineticin receptor 1 JBrowse link 4 119,375,790 119,386,551 RGD:8554872
G Ret ret proto-oncogene JBrowse link 4 150,202,170 150,249,196 RGD:8554872
RGD:7240710
RGD:12910713
RGD:11554173
G Sema3d semaphorin 3D JBrowse link 4 19,224,378 19,413,519 RGD:8554872
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:12801434
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:12879497
G Sox10 SRY box 10 JBrowse link 7 120,393,238 120,403,523 RGD:12802335
RGD:8554872
G Stx1a syntaxin 1A JBrowse link 12 24,682,050 24,710,002 RGD:1581432
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:8554872
G Utp25 UTP25, small subunit processor component JBrowse link 13 111,828,052 111,849,654 RGD:11554173
G Wnt8b Wnt family member 8B JBrowse link 1 264,244,150 264,266,136 RGD:12801434
G Zeb2 zinc finger E-box binding homeobox 2 JBrowse link 3 29,857,289 29,985,932 RGD:1599885
imperforate anus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctnnb1 catenin beta 1 JBrowse link 8 129,601,511 129,628,378 RGD:8554872
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:8554872
G Pcsk5 proprotein convertase subtilisin/kexin type 5 JBrowse link 1 236,031,988 236,313,858 RGD:11554173
intestinal atresia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf10 fibroblast growth factor 10 JBrowse link 2 51,673,480 51,747,533 RGD:13592920
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:13592920
Johanson-Blizzard syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ubr1 ubiquitin protein ligase E3 component n-recognin 1 JBrowse link 3 112,800,557 112,910,038 RGD:7240710
RGD:8554872
Microphthalmia, Syndromic 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Six6 SIX homeobox 6 JBrowse link 6 95,816,749 95,821,729 RGD:11554173
G Sox2 SRY box 2 JBrowse link 2 121,165,137 121,167,545 RGD:7240710
RGD:8554872
Mitchell-Riley Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rfx6 regulatory factor X, 6 JBrowse link 20 32,709,282 32,764,040 RGD:7240710
RGD:8554872
Mowat-Wilson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gtdc1 glycosyltransferase-like domain containing 1 JBrowse link 3 29,410,426 29,705,981 RGD:8554872
G Zeb2 zinc finger E-box binding homeobox 2 JBrowse link 3 29,857,289 29,985,932 RGD:7240710
RGD:8554872
RGD:11554173
G Zeb2os zinc finger E-box binding homeobox 2, opposite strand JBrowse link 3 29,994,753 29,997,626 RGD:8554872
multiple intestinal atresia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 1 225,035,956 225,046,137 RGD:8554872
G Mcfd2 multiple coagulation factor deficiency 2 JBrowse link 6 10,887,303 10,899,221 RGD:8554872
G Pkd1 polycystin 1, transient receptor potential channel interacting JBrowse link 10 13,914,057 13,962,008 RGD:8554872
G Ttc7a tetratricopeptide repeat domain 7A JBrowse link 6 10,912,383 11,014,279 RGD:7240710
RGD:8554872
Mungan Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rad21 RAD21 cohesin complex component JBrowse link 7 91,511,755 91,538,673 RGD:7240710
RGD:8554872
Oculootofacial Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aadac arylacetamide deacetylase JBrowse link 2 150,146,234 150,157,480 RGD:8554872
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 JBrowse link 1 216,293,087 216,630,339 RGD:8554872
G Tmem43 transmembrane protein 43 JBrowse link 4 123,118,468 123,133,610 RGD:8554872
G Xpc XPC complex subunit, DNA damage recognition and repair factor JBrowse link 4 123,134,457 123,161,985 RGD:8554872
Oculootoradial Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sall4 spalt-like transcription factor 4 JBrowse link 3 165,520,155 165,538,176 RGD:7240710
RGD:8554872
PCWH syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:13592920
G Polr2f RNA polymerase II subunit F JBrowse link 7 120,380,543 120,392,214 RGD:8554872
G Sox10 SRY box 10 JBrowse link 7 120,393,238 120,403,523 RGD:7240710
RGD:8554872
RGD:12802339
Persistent Cloaca term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:12801442
Stromme syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cenpf centromere protein F JBrowse link 13 108,132,499 108,178,609 RGD:8554872
RGD:7240710
Total Intestinal Aganglionosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ednrb endothelin receptor type B JBrowse link 15 88,004,775 88,036,354 RGD:6480217
RGD:8554872
Townes-Brocks syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dact1 dishevelled-binding antagonist of beta-catenin 1 JBrowse link 6 93,740,440 93,751,003 RGD:11554173
G Sall1 spalt-like transcription factor 1 JBrowse link 19 23,387,737 23,405,025 RGD:7240710
RGD:8554872
RGD:11554173
Townes-Brocks Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dact1 dishevelled-binding antagonist of beta-catenin 1 JBrowse link 6 93,740,440 93,751,003 RGD:8554872
RGD:7240710
Townes-Brocks-Branchiootorenal-Like Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sall1 spalt-like transcription factor 1 JBrowse link 19 23,387,737 23,405,025 RGD:8554872
VACTERL association term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cplane2 ciliogenesis and planar polarity effector 2 JBrowse link 5 159,735,008 159,735,956 RGD:13592920
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:13592920
G Fn1 fibronectin 1 JBrowse link 9 78,900,111 78,969,018 RGD:7205466
G Foxf1 forkhead box F1 JBrowse link 19 53,012,306 53,016,100 RGD:8554872
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:8554872
RGD:11554173
G Ift172 intraflagellar transport 172 JBrowse link 6 26,390,686 26,485,459 RGD:13592920
G Pcsk5 proprotein convertase subtilisin/kexin type 5 JBrowse link 1 236,031,988 236,313,858 RGD:11554173
RGD:11556208
G Qsox1 quiescin sulfhydryl oxidase 1 JBrowse link 13 73,423,396 73,460,890 RGD:13592920
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:12801426
G Tbc1d32 TBC1 domain family, member 32 JBrowse link 20 37,463,879 37,701,268 RGD:13592920
VACTERL/VATER Association with Hydrocephalus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Baz1a bromodomain adjacent to zinc finger domain, 1A JBrowse link 6 75,793,223 75,873,854 RGD:8554872
G Fancb FA complementation group B JBrowse link X 31,124,018 31,140,790 RGD:11554173
RGD:8554872
G Klln killin, p53-regulated DNA replication inhibitor JBrowse link 1 251,417,849 251,420,794 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:11554173
RGD:8554872
G Zic3 Zic family member 3 JBrowse link X 140,875,191 140,888,344 RGD:8554872
RGD:7240710
Volvulus Of Midgut term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:12801473
Waardenburg Syndrome Type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edn3 endothelin 3 JBrowse link 3 172,856,730 172,879,276 RGD:11554173
G Ednrb endothelin receptor type B JBrowse link 15 88,004,775 88,036,354 RGD:6480217
G Sox10 SRY box 10 JBrowse link 7 120,393,238 120,403,523 RGD:12832744
Waardenburg syndrome type 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ednrb endothelin receptor type B JBrowse link 15 88,004,775 88,036,354 RGD:7240710
RGD:8554872
G Polr2f RNA polymerase II subunit F JBrowse link 7 120,380,543 120,392,214 RGD:8554872
G Sox10 SRY box 10 JBrowse link 7 120,393,238 120,403,523 RGD:8554872
Waardenburg syndrome type 4B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edn3 endothelin 3 JBrowse link 3 172,856,730 172,879,276 RGD:7240710
RGD:8554872
Waardenburg syndrome type 4C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polr2f RNA polymerase II subunit F JBrowse link 7 120,380,543 120,392,214 RGD:8554872
G Sox10 SRY box 10 JBrowse link 7 120,393,238 120,403,523 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      gastrointestinal system disease 4267
        Digestive System Abnormalities 266
          Absent Duct of Santorini 0
          Acrorenal Mandibular Syndrome 0
          Acrorenal Syndrome Recessive 0
          Anorectal Malformations + 57
          Barrett's esophagus + 32
          Craniosynostosis, Anal Anomalies, and Porokeratosis 0
          Currarino Triad 56
          Hirschsprung's disease + 98
          Meckel's diverticulum 0
          Volvulus Of Midgut 1
          biliary atresia + 11
          choledochal cyst + 7
          diaphragmatic eventration + 0
          esophageal atresia + 8
          intestinal atresia + 12
Path 2
Term Annotations click to browse term
  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        Congenital Abnormalities 3197
          Digestive System Abnormalities 266
            Absent Duct of Santorini 0
            Acrorenal Mandibular Syndrome 0
            Acrorenal Syndrome Recessive 0
            Anorectal Malformations + 57
            Barrett's esophagus + 32
            Craniosynostosis, Anal Anomalies, and Porokeratosis 0
            Currarino Triad 56
            Hirschsprung's disease + 98
            Meckel's diverticulum 0
            Volvulus Of Midgut 1
            biliary atresia + 11
            choledochal cyst + 7
            diaphragmatic eventration + 0
            esophageal atresia + 8
            intestinal atresia + 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.