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ONTOLOGY REPORT - ANNOTATIONS
Term:Maxillofacial Abnormalities
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Accession:DOID:9004563 term browser browse the term
Definition:Congenital structural deformities, malformations, or other abnormalities of the maxilla and face or facial bones.
Synonyms:exact_synonym: Maxillofacial Abnormality
 primary_id: MESH:D019767;   RDO:0000753
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants       view all columns           Sort by:
 
Maxillofacial Abnormalities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:704391
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:11554173
Abruzzo Erickson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbx22 T-box transcription factor 22 JBrowse link X 78,731,738 78,782,542 RGD:7240710
RGD:8554872
agnathia-otocephaly complex term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxh1 forkhead box H1 JBrowse link 7 117,730,307 117,733,076 RGD:13592920
G Prrx1 paired related homeobox 1 JBrowse link 13 81,147,038 81,215,559 RGD:7240710
RGD:8554872
RGD:11554173
G Trappc10 trafficking protein particle complex 10 JBrowse link 20 11,168,298 11,228,634 RGD:13592920
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:7240710
RGD:8554872
RGD:11568643
RGD:11554173
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 2 241,909,332 242,186,861 RGD:8554872
RGD:7240710
autosomal dominant non-syndromic intellectual disability 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox11 SRY-box transcription factor 11 JBrowse link 6 46,629,967 46,631,988 RGD:8554872
RGD:7240710
autosomal recessive Robinow syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prickle1 prickle planar cell polarity protein 1 JBrowse link 7 134,702,964 134,799,437 RGD:13592920
G Ror2 receptor tyrosine kinase-like orphan receptor 2 JBrowse link 17 11,953,552 12,134,386 RGD:7240710
RGD:8554872
RGD:11554173
RGD:11537348
RGD:11537347
RGD:11535948
Bamforth-Lazarus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bche butyrylcholinesterase JBrowse link 2 171,104,476 171,196,186 RGD:11554173
G Foxe1 forkhead box E1 JBrowse link 5 61,954,549 61,957,357 RGD:7240710
RGD:8554872
RGD:11554173
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med25 mediator complex subunit 25 JBrowse link 1 100,872,240 100,887,864 RGD:8554872
RGD:7240710
blepharocheilodontic syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh1 cadherin 1 JBrowse link 19 38,768,467 38,838,395 RGD:8554872
blepharocheilodontic syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh1 cadherin 1 JBrowse link 19 38,768,467 38,838,395 RGD:7240710
RGD:8554872
blepharocheilodontic syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctnnd1 catenin delta 1 JBrowse link 3 72,001,904 72,053,047 RGD:8554872
RGD:7240710
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Meis2 Meis homeobox 2 JBrowse link 3 107,560,172 107,762,732 RGD:8554872
RGD:7240710
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mymk myomaker, myoblast fusion factor JBrowse link 3 5,608,243 5,617,689 RGD:8554872
RGD:7240710
Catel Manzke Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgds TDP-glucose 4,6-dehydratase JBrowse link 15 103,319,268 103,340,239 RGD:8554872
RGD:7240710
cerebral cavernous malformation 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccm2 CCM2 scaffold protein JBrowse link 14 86,812,728 86,859,408 RGD:7240710
RGD:8554872
G Nacad NAC alpha domain containing JBrowse link 14 86,860,607 86,868,605 RGD:8554872
cerebral cavernous malformation 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdcd10 programmed cell death 10 JBrowse link 2 173,966,701 174,012,730 RGD:7240710
RGD:8554872
cerebrocostomandibular syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Snrpb small nuclear ribonucleoprotein polypeptides B and B1 JBrowse link 3 122,696,125 122,703,734 RGD:8554872
RGD:7240710
cherubism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sh3bp2 SH3-domain binding protein 2 JBrowse link 14 81,435,445 81,473,013 RGD:1599339
RGD:8554872
RGD:7240710
cleft lip term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca4 ATP binding cassette subfamily A member 4 JBrowse link 2 225,645,539 225,783,288 RGD:11554173
G Arhgap29 Rho GTPase activating protein 29 JBrowse link 2 225,552,075 225,613,349 RGD:8554872
G Bhmt2 betaine-homocysteine S-methyltransferase 2 JBrowse link 2 23,272,320 23,289,266 RGD:11554173
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:8554872
RGD:13442497
RGD:13442495
G Cdh1 cadherin 1 JBrowse link 19 38,768,467 38,838,395 RGD:1599548
G Dnah11 dynein, axonemal, heavy chain 11 JBrowse link 6 145,784,893 146,099,212 RGD:8554872
G Fgf1 fibroblast growth factor 1 JBrowse link 18 32,273,830 32,359,831 RGD:11567264
G Fgf10 fibroblast growth factor 10 JBrowse link 2 51,673,480 51,747,533 RGD:11554173
G Fgf2 fibroblast growth factor 2 JBrowse link 2 124,081,072 124,134,133 RGD:11554173
G Fgf3 fibroblast growth factor 3 JBrowse link 1 218,003,018 218,006,942 RGD:11554173
G Fgf7 fibroblast growth factor 7 JBrowse link 3 118,315,859 118,368,464 RGD:11554173
G Fgf8 fibroblast growth factor 8 JBrowse link 1 265,492,949 265,498,965 RGD:11554173
G Fgf9 fibroblast growth factor 9 JBrowse link 15 38,341,657 38,386,945 RGD:11554173
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:11554173
RGD:11567264
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:11554173
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:11554173
G Gdf6 growth differentiation factor 6 JBrowse link 5 23,056,345 23,072,666 RGD:12798509
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:8554872
G Irf6 interferon regulatory factor 6 JBrowse link 13 111,870,121 111,889,328 RGD:1600214
RGD:8554872
RGD:11554173
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:11553833
G Mafb MAF bZIP transcription factor B JBrowse link 3 156,338,993 156,340,913 RGD:11554173
G Msx1 msh homeobox 1 JBrowse link 14 77,712,262 77,716,061 RGD:5132609
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 JBrowse link 6 99,282,850 99,350,367 RGD:12910961
RGD:12910962
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:11554173
RGD:11565179
G Mthfs methenyltetrahydrofolate synthetase JBrowse link 8 96,564,877 96,614,386 RGD:11554173
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 17 66,210,444 66,295,014 RGD:11554173
G Myc MYC proto-oncogene, bHLH transcription factor JBrowse link 7 102,586,313 102,591,240 RGD:11554173
G Nectin1 nectin cell adhesion molecule 1 JBrowse link 8 48,094,233 48,198,499 RGD:1599795
G Nog noggin JBrowse link 10 76,811,759 76,813,386 RGD:12801482
RGD:11251786
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:11554173
G Ntn1 netrin 1 JBrowse link 10 54,761,925 54,982,072 RGD:8554872
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:11532685
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:11554173
G Sdc2 syndecan 2 JBrowse link 7 71,572,731 71,686,139 RGD:12798509
G Slc19a1 solute carrier family 19 member 1 JBrowse link 20 12,334,675 12,354,517 RGD:11554173
RGD:11565176
G Spry2 sprouty RTK signaling antagonist 2 JBrowse link 15 90,172,769 90,177,823 RGD:11554173
G Sumo1 small ubiquitin-like modifier 1 JBrowse link 9 66,453,428 66,483,614 RGD:11554173
RGD:8554872
G Tcn2 transcobalamin 2 JBrowse link 14 84,173,992 84,189,299 RGD:11554173
G Tmco1 transmembrane and coiled-coil domains 1 JBrowse link 13 85,465,015 85,559,113 RGD:8554872
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:11554173
RGD:8554872
G Tyms thymidylate synthetase JBrowse link 9 121,918,875 121,931,564 RGD:11554173
cleft lip-palate-ectodermal dysplasia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nectin1 nectin cell adhesion molecule 1 JBrowse link 8 48,094,233 48,198,499 RGD:7240710
RGD:11554173
RGD:8554872
cleft palate term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bhmt2 betaine-homocysteine S-methyltransferase 2 JBrowse link 2 23,272,320 23,289,266 RGD:11554173
G Bnc2 basonuclin 2 JBrowse link 5 102,407,508 102,807,389 RGD:11554173
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:11554173
RGD:11576291
G Cbfb core-binding factor subunit beta JBrowse link 19 37,127,508 37,171,075 RGD:11554173
G Chuk component of inhibitor of nuclear factor kappa B kinase complex JBrowse link 1 263,848,829 263,884,354 RGD:11554173
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:12436724
RGD:12904711
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:11554173
RGD:12436724
G Dlg1 discs large MAGUK scaffold protein 1 JBrowse link 11 72,164,566 72,378,895 RGD:11554173
G Dnah11 dynein, axonemal, heavy chain 11 JBrowse link 6 145,784,893 146,099,212 RGD:8554872
G Egf epidermal growth factor JBrowse link 2 68,820,616 68,895,537 RGD:11554173
G Fgf10 fibroblast growth factor 10 JBrowse link 2 51,673,480 51,747,533 RGD:11554173
G Fgf2 fibroblast growth factor 2 JBrowse link 2 124,081,072 124,134,133 RGD:11554173
G Fgf3 fibroblast growth factor 3 JBrowse link 1 218,003,018 218,006,942 RGD:11554173
G Fgf7 fibroblast growth factor 7 JBrowse link 3 118,315,859 118,368,464 RGD:11554173
G Fgf8 fibroblast growth factor 8 JBrowse link 1 265,492,949 265,498,965 RGD:11554173
G Fgf9 fibroblast growth factor 9 JBrowse link 15 38,341,657 38,386,945 RGD:11554173
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:11554173
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:11554173
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:11554173
G Flnb filamin B JBrowse link 15 18,750,152 18,883,019 RGD:12791026
G Fzd4 frizzled class receptor 4 JBrowse link 1 153,589,471 153,598,376 RGD:11554173
G Gata6 GATA binding protein 6 JBrowse link 18 2,415,821 2,447,087 RGD:13208933
G Gdf6 growth differentiation factor 6 JBrowse link 5 23,056,345 23,072,666 RGD:12798509
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:12738224
G Gnb1 G protein subunit beta 1 JBrowse link 5 172,914,025 172,981,403 RGD:8554872
G Golgb1 golgin B1 JBrowse link 11 66,761,646 66,819,115 RGD:13592920
G Grhl3 grainyhead-like transcription factor 3 JBrowse link 5 153,893,039 153,925,045 RGD:8554872
G Inpp1 inositol polyphosphate-1-phosphatase JBrowse link 9 53,544,602 53,574,303 RGD:8554872
G Irf6 interferon regulatory factor 6 JBrowse link 13 111,870,121 111,889,328 RGD:1600214
RGD:12436724
RGD:8554872
RGD:11554173
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:11554173
G Mnt MAX network transcriptional repressor JBrowse link 10 61,683,776 61,700,504 RGD:11554173
G Msx1 msh homeobox 1 JBrowse link 14 77,712,262 77,716,061 RGD:5132609
RGD:11554173
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 JBrowse link 6 99,282,850 99,350,367 RGD:12914151
G Mthfs methenyltetrahydrofolate synthetase JBrowse link 8 96,564,877 96,614,386 RGD:11554173
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 17 66,210,444 66,295,014 RGD:11554173
G Myc MYC proto-oncogene, bHLH transcription factor JBrowse link 7 102,586,313 102,591,240 RGD:11554173
G Nectin1 nectin cell adhesion molecule 1 JBrowse link 8 48,094,233 48,198,499 RGD:1599795
G Nedd4l NEDD4 like E3 ubiquitin protein ligase JBrowse link 18 60,392,376 60,719,720 RGD:11554173
G Nek9 NIMA-related kinase 9 JBrowse link 6 109,121,524 109,162,433 RGD:8554872
G Nfia nuclear factor I/A JBrowse link 5 116,421,895 116,750,381 RGD:8554872
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:11554173
G Pax9 paired box 9 JBrowse link 6 77,607,705 77,624,453 RGD:12801424
G Pdgfra platelet derived growth factor receptor alpha JBrowse link 14 35,527,926 35,581,130 RGD:11554173
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:12910559
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:11554173
G Rarg retinoic acid receptor, gamma JBrowse link 7 143,840,739 143,863,206 RGD:11554173
G Ror2 receptor tyrosine kinase-like orphan receptor 2 JBrowse link 17 11,953,552 12,134,386 RGD:11535950
G Ryk receptor-like tyrosine kinase JBrowse link 8 111,326,339 111,398,640 RGD:11554173
G Satb2 SATB homeobox 2 JBrowse link 9 63,456,877 63,642,193 RGD:11554173
RGD:8554872
G Sdc2 syndecan 2 JBrowse link 7 71,572,731 71,686,139 RGD:12798509
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:12801424
G Shox2 short stature homeobox 2 JBrowse link 2 164,118,175 164,126,783 RGD:12859081
G Sim2 SIM bHLH transcription factor 2 JBrowse link 11 34,315,739 34,355,183 RGD:11554173
G Slc19a1 solute carrier family 19 member 1 JBrowse link 20 12,334,675 12,354,517 RGD:11554173
G Spry2 sprouty RTK signaling antagonist 2 JBrowse link 15 90,172,769 90,177,823 RGD:11554173
G Sumo1 small ubiquitin-like modifier 1 JBrowse link 9 66,453,428 66,483,614 RGD:11554173
G Tbx22 T-box transcription factor 22 JBrowse link X 78,731,738 78,782,542 RGD:724722
RGD:8554872
G Tenm4 teneurin transmembrane protein 4 JBrowse link 1 161,183,858 161,885,094 RGD:8554872
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11554173
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:11554173
G Tgfb3 transforming growth factor, beta 3 JBrowse link 6 109,913,757 109,936,217 RGD:12801424
RGD:11554173
G Tmco1 transmembrane and coiled-coil domains 1 JBrowse link 13 85,465,015 85,559,113 RGD:8554872
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:11554173
G Tyms thymidylate synthetase JBrowse link 9 121,918,875 121,931,564 RGD:11554173
Cleft Palate with Ankyloglossia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbx22 T-box transcription factor 22 JBrowse link X 78,731,738 78,782,542 RGD:8554872
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kdm1a lysine demethylase 1A JBrowse link 5 154,909,003 154,965,171 RGD:7240710
RGD:8554872
cleft palate-lateral synechia syndrome 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:13592920
cleft soft palate term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 JBrowse link 8 99,977,334 100,059,736 RGD:8554872
G Tgfbr2 transforming growth factor, beta receptor 2 JBrowse link 8 124,310,288 124,399,345 RGD:13592920
Coffin-Siris syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1a AT-rich interaction domain 1A JBrowse link 5 151,904,687 151,977,973 RGD:8554872
RGD:13592920
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
RGD:11526783
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 1 244,615,811 244,783,736 RGD:8554872
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link 8 22,648,323 22,739,468 RGD:8554872
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 JBrowse link 20 13,679,955 13,702,821 RGD:8554872
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 JBrowse link 10 87,116,827 87,138,890 RGD:8554872
Coffin-Siris syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1a AT-rich interaction domain 1A JBrowse link 5 151,904,687 151,977,973 RGD:8554872
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
RGD:7240710
G Dpf2 double PHD fingers 2 JBrowse link 1 221,253,764 221,269,043 RGD:8554872
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 1 244,615,811 244,783,736 RGD:8554872
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link 8 22,648,323 22,739,468 RGD:8554872
Coffin-Siris Syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox4 SRY-box transcription factor 4 JBrowse link 17 37,615,022 37,619,728 RGD:7240710
RGD:8554872
Coffin-Siris syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1a AT-rich interaction domain 1A JBrowse link 5 151,904,687 151,977,973 RGD:7240710
RGD:8554872
Coffin-Siris syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 JBrowse link 20 13,679,955 13,702,821 RGD:7240710
RGD:8554872
Coffin-Siris syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link 8 22,648,323 22,739,468 RGD:7240710
RGD:8554872
Coffin-Siris Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 JBrowse link 10 87,116,827 87,138,890 RGD:8554872
RGD:7240710
Coffin-Siris syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid2 AT-rich interaction domain 2 JBrowse link 7 137,680,564 137,798,329 RGD:8554872
RGD:7240710
Coffin-Siris Syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dpf2 double PHD fingers 2 JBrowse link 1 221,253,764 221,269,043 RGD:8554872
RGD:7240710
Coffin-Siris Syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarcc2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 JBrowse link 7 2,875,898 2,905,463 RGD:7240710
RGD:8554872
Congenital Symmetric Circumferential Skin Creases 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubb5 tubulin, beta 5 class I JBrowse link 20 3,422,448 3,426,420 RGD:7240710
Congenital Symmetric Circumferential Skin Creases 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mapre2 microtubule-associated protein, RP/EB family, member 2 JBrowse link 18 14,814,149 15,780,290 RGD:7240710
RGD:8554872
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Igbp1 immunoglobulin binding protein 1 JBrowse link X 70,322,764 70,345,005 RGD:7240710
RGD:8554872
Diamond-Blackfan Anemia with Microtia and Cleft Palate term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100361854 ribosomal protein S26-like JBrowse link X 115,495,660 115,496,062 RGD:8554872
G Rps28 ribosomal protein S28 JBrowse link 7 18,682,071 18,683,440 RGD:8554872
G Tsr2 TSR2, ribosome maturation factor JBrowse link X 20,141,406 20,146,082 RGD:8554872
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:1600403
RGD:8554872
RGD:11532814
RGD:11568642
RGD:11568640
RGD:7240710
EEC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:11554173
RGD:8554872
RGD:11568639
RGD:11568638
RGD:11070288
RGD:11568075
RGD:11568074
Frontonasal Dysplasia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alx1 ALX homeobox 1 JBrowse link 7 44,751,865 44,771,458 RGD:7240710
RGD:8554872
gnathodiaphyseal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ano5 anoctamin 5 JBrowse link 1 106,873,580 106,971,769 RGD:7240710
RGD:8554872
RGD:11570566
RGD:11570556
Gordon Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 58,353,361 58,728,555 RGD:7240710
RGD:8554872
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:8554872
RGD:7240710
isolated cleft palate term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdgfra platelet derived growth factor receptor alpha JBrowse link 14 35,527,926 35,581,130 RGD:8554872
G Satb2 SATB homeobox 2 JBrowse link 9 63,456,877 63,642,193 RGD:13592920
RGD:8554872
Jaw Abnormalities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Otx2 orthodenticle homeobox 2 JBrowse link 15 25,500,037 25,511,619 RGD:11554173
G Pcsk5 proprotein convertase subtilisin/kexin type 5 JBrowse link 1 236,031,988 236,313,858 RGD:11554173
G Pold1 DNA polymerase delta 1, catalytic subunit JBrowse link 1 100,538,066 100,554,105 RGD:11554173
G Smo smoothened, frizzled class receptor JBrowse link 4 57,019,941 57,041,779 RGD:11554173
G Twsg1 twisted gastrulation BMP signaling modulator 1 JBrowse link 9 113,699,151 113,732,601 RGD:11554173
Kniest dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:7240710
RGD:8554872
RGD:11554173
Larsen syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst3 carbohydrate sulfotransferase 3 JBrowse link 20 29,731,828 29,768,656 RGD:8554872
G Flnb filamin B JBrowse link 15 18,750,152 18,883,019 RGD:7240710
RGD:8554872
RGD:11554173
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pold1 DNA polymerase delta 1, catalytic subunit JBrowse link 1 100,538,066 100,554,105 RGD:7240710
RGD:8554872
Meier-Gorlin syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp5 bone morphogenetic protein 5 JBrowse link 8 82,669,466 82,950,273 RGD:13592920
G Cdc45 cell division cycle 45 JBrowse link 11 86,328,785 86,354,099 RGD:11554173
G Cdc6 cell division cycle 6 JBrowse link 10 86,819,477 86,833,301 RGD:11554173
RGD:8554872
G Cdt1 chromatin licensing and DNA replication factor 1 JBrowse link 19 55,381,565 55,386,511 RGD:11554173
RGD:8554872
G Gmnn geminin, DNA replication inhibitor JBrowse link 17 42,302,523 42,310,783 RGD:8554872
RGD:11554173
G Orc1 origin recognition complex, subunit 1 JBrowse link 5 128,186,651 128,212,901 RGD:8554872
RGD:11554173
G Orc4 origin recognition complex, subunit 4 JBrowse link 3 33,034,913 33,075,833 RGD:11554173
G Orc6 origin recognition complex, subunit 6 JBrowse link 19 27,457,541 27,464,804 RGD:11554173
RGD:8554872
G Vps35 VPS35 retromer complex component JBrowse link 19 27,464,937 27,500,636 RGD:8554872
Meier-Gorlin syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Orc1 origin recognition complex, subunit 1 JBrowse link 5 128,186,651 128,212,901 RGD:8554872
RGD:7240710
Meier-Gorlin syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Orc4 origin recognition complex, subunit 4 JBrowse link 3 33,034,913 33,075,833 RGD:8554872
RGD:7240710
Meier-Gorlin syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Orc6 origin recognition complex, subunit 6 JBrowse link 19 27,457,541 27,464,804 RGD:8554872
RGD:7240710
Meier-Gorlin syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdt1 chromatin licensing and DNA replication factor 1 JBrowse link 19 55,381,565 55,386,511 RGD:8554872
RGD:7240710
Meier-Gorlin syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdc6 cell division cycle 6 JBrowse link 10 86,819,477 86,833,301 RGD:8554872
RGD:7240710
Meier-Gorlin syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gmnn geminin, DNA replication inhibitor JBrowse link 17 42,302,523 42,310,783 RGD:8554872
RGD:7240710
Meier-Gorlin syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdc45 cell division cycle 45 JBrowse link 11 86,328,785 86,354,099 RGD:8554872
RGD:7240710
Meier-Gorlin syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mcm5 minichromosome maintenance complex component 5 JBrowse link 19 14,523,482 14,561,281 RGD:8554872
RGD:7240710
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sobp sine oculis binding protein homolog JBrowse link 20 47,731,713 47,910,466 RGD:7240710
RGD:8554872
Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Snx3 sorting nexin 3 JBrowse link 20 47,225,382 47,263,390 RGD:7240710
Micrognathism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:8554872
G Ep300 E1A binding protein p300 JBrowse link 7 122,818,194 122,889,055 RGD:8554872
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:8554872
G Nog noggin JBrowse link 10 76,811,759 76,813,386 RGD:12801465
G Pgm1 phosphoglucomutase 1 JBrowse link 5 118,743,632 118,803,055 RGD:8554872
G RGD1307100 similar to RIKEN cDNA D630029K19 JBrowse link 2 123,555,742 123,766,675 RGD:8554872
G Rps6ka3 ribosomal protein S6 kinase A3 JBrowse link X 37,469,736 37,576,055 RGD:8554872
G Satb2 SATB homeobox 2 JBrowse link 9 63,456,877 63,642,193 RGD:8554872
G Sf3b4 splicing factor 3b, subunit 4 JBrowse link 2 198,312,428 198,317,180 RGD:8554872
Microtia, Hearing Impairment, and Cleft Palate term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxa1 homeobox A1 JBrowse link 4 82,124,358 82,127,182 RGD:8554872
G Hoxa2 homeobox A2 JBrowse link 4 82,130,441 82,134,846 RGD:7240710
RGD:8554872
RGD:11554173
Native American myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stac3 SH3 and cysteine rich domain 3 JBrowse link 7 70,807,427 70,815,271 RGD:7240710
RGD:8554872
Oculomaxillofacial Dysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like JBrowse link 20 14,287,470 14,393,879 RGD:7240710
RGD:8554872
Opitz GBBB Syndrome, Type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mid1 midline 1 JBrowse link X 25,458,782 25,839,941 RGD:7240710
RGD:8554872
orofacial cleft term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acss2 acyl-CoA synthetase short-chain family member 2 JBrowse link 3 151,032,925 151,075,856 RGD:13831307
RGD:13831309
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:8554872
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:12792251
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:12792210
G Loxhd1 lipoxygenase homology domains 1 JBrowse link 18 73,645,365 73,812,271 RGD:13204730
G Msx1 msh homeobox 1 JBrowse link 14 77,712,262 77,716,061 RGD:13592920
G Myh9 myosin, heavy chain 9 JBrowse link 7 118,740,005 118,792,507 RGD:12798509
RGD:12798514
RGD:12798512
RGD:12798511
G Phyh phytanoyl-CoA 2-hydroxylase JBrowse link 17 77,287,580 77,304,482 RGD:13831309
G Tfap2a transcription factor AP-2 alpha JBrowse link 17 24,653,342 24,670,457 RGD:13592920
orofacial cleft 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh1 cadherin 1 JBrowse link 19 38,768,467 38,838,395 RGD:8554872
G Lrp6 LDL receptor related protein 6 JBrowse link 4 168,194,054 168,323,962 RGD:8554872
G Nectin2 nectin cell adhesion molecule 2 JBrowse link 1 80,631,449 80,666,617 RGD:11554173
G Phyh phytanoyl-CoA 2-hydroxylase JBrowse link 17 77,287,580 77,304,482 RGD:8554872
G Pvr PVR cell adhesion molecule JBrowse link 1 80,820,306 80,835,712 RGD:11554173
orofacial cleft 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Irf6 interferon regulatory factor 6 JBrowse link 13 111,870,121 111,889,328 RGD:8554872
G Sumo1 small ubiquitin-like modifier 1 JBrowse link 9 66,453,428 66,483,614 RGD:7240710
RGD:8554872
orofacial cleft 11 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:7240710
RGD:8554872
orofacial cleft 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dlx4 distal-less homeobox 4 JBrowse link 10 82,958,525 82,963,919 RGD:8554872
RGD:7240710
orofacial cleft 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Msx1 msh homeobox 1 JBrowse link 14 77,712,262 77,716,061 RGD:7240710
RGD:8554872
orofacial cleft 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Irf6 interferon regulatory factor 6 JBrowse link 13 111,870,121 111,889,328 RGD:7240710
RGD:8554872
orofacial cleft 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nectin1 nectin cell adhesion molecule 1 JBrowse link 8 48,094,233 48,198,499 RGD:8554872
orofacial cleft 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:8554872
RGD:7240710
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 18 60,392,376 60,719,720 RGD:8554872
Peters plus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3glct beta 3-glucosyltransferase JBrowse link 12 6,403,118 6,476,010 RGD:7240710
RGD:8554872
RGD:11554173
Pierre Robin Syndrome with Fetal Chondrodysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:7240710
RGD:8554872
RGD:12904710
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:8554872
popliteal pterygium syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Irf6 interferon regulatory factor 6 JBrowse link 13 111,870,121 111,889,328 RGD:7240710
RGD:8554872
G Ripk4 receptor-interacting serine-threonine kinase 4 JBrowse link 11 38,251,991 38,274,234 RGD:8554872
RGD:13592920
Popliteal Pterygium Syndrome, Lethal Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ripk4 receptor-interacting serine-threonine kinase 4 JBrowse link 11 38,251,991 38,274,234 RGD:7240710
RGD:8554872
postaxial acrofacial dysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dhodh dihydroorotate dehydrogenase (quinone) JBrowse link 19 42,066,103 42,087,906 RGD:7240710
RGD:8554872
Prognathism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:11667107
G Deaf1 DEAF1 transcription factor JBrowse link 1 214,283,787 214,317,466 RGD:8554872
G Dpyd dihydropyrimidine dehydrogenase JBrowse link 2 221,823,692 222,694,627 RGD:8554872
Raine Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam20c FAM20C, golgi associated secretory pathway kinase JBrowse link 12 17,913,771 17,972,733 RGD:7240710
RGD:8554872
RGD:11560486
Rapp-Hodgkin syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:7240710
RGD:11554173
Retrognathia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP binding cassette subfamily C member 8 JBrowse link 1 102,110,708 102,191,287 RGD:8554872
G Clcn1 chloride voltage-gated channel 1 JBrowse link 4 71,674,218 71,704,318 RGD:8554872
G Ep300 E1A binding protein p300 JBrowse link 7 122,818,194 122,889,055 RGD:8554872
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:8554872
G Lbr lamin B receptor JBrowse link 13 100,431,390 100,450,209 RGD:8554872
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:8554872
G Prrx1 paired related homeobox 1 JBrowse link 13 81,147,038 81,215,559 RGD:11554173
Richieri Costa Pereira Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eif4a3 eukaryotic translation initiation factor 4A3 JBrowse link 10 108,415,201 108,425,195 RGD:7240710
RGD:8554872
Scaphocephaly, Maxillary Retrusion, and Mental Retardation 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:7240710
RGD:8554872
split hand-foot malformation 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbxw4 F-box and WD repeat domain containing 4 JBrowse link 1 265,318,526 265,420,503 RGD:7240710
TARP Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rbm10 RNA binding motif protein 10 JBrowse link X 1,754,869 1,786,973 RGD:7240710
RGD:8554872
uveal coloboma-cleft lip and palate-intellectual disability term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Yap1 Yes1 associated transcriptional regulator JBrowse link 8 6,133,014 6,204,240 RGD:7240710
RGD:8554872
Van der Woude syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grhl3 grainyhead-like transcription factor 3 JBrowse link 5 153,893,039 153,925,045 RGD:13592920
RGD:8554872
G Irf6 interferon regulatory factor 6 JBrowse link 13 111,870,121 111,889,328 RGD:7240710
RGD:8554872
RGD:11554173
G LOC100125367 hypothetical protein LOC100125367 JBrowse link 13 111,890,825 111,893,308 RGD:8554872
Van der Woude Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cfap57 cilia and flagella associated protein 57 JBrowse link 5
5		 137,383,065
137,652,118		 137,458,594
137,670,067		 RGD:8554872
G Grhl3 grainyhead-like transcription factor 3 JBrowse link 5 153,893,039 153,925,045 RGD:7240710
RGD:8554872
Weissenbacher-Zweymuller syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acadvl acyl-CoA dehydrogenase, very long chain JBrowse link 10 56,619,321 56,624,468 RGD:8554872
G Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 JBrowse link 10 56,492,300 56,506,446 RGD:8554872
G Acvr2a activin A receptor type 2A JBrowse link 3 32,947,901 33,034,598 RGD:13592920
G Auts2 activator of transcription and developmental regulator AUTS2 JBrowse link 12 27,155,362 28,252,752 RGD:8554872
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit JBrowse link 10 56,390,671 56,403,255 RGD:8554872
G Cldn7 claudin 7 JBrowse link 10 56,576,326 56,578,632 RGD:8554872
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:8554872
G Ctdnep1 CTD nuclear envelope phosphatase 1 JBrowse link 10 56,590,822 56,600,235 RGD:8554872
G Dvl2 dishevelled segment polarity protein 2 JBrowse link 10 56,609,810 56,619,269 RGD:8554872
G Ebf3 EBF transcription factor 3 JBrowse link 1 209,523,153 209,641,143 RGD:8554872
G Eif5a eukaryotic translation initiation factor 5A JBrowse link 10 56,527,075 56,531,615 RGD:8554872
G Elp5 elongator acetyltransferase complex subunit 5 JBrowse link 10 56,578,980 56,590,706 RGD:8554872
G Fgf11 fibroblast growth factor 11 JBrowse link 10 56,403,320 56,410,816 RGD:8554872
G Gabarap GABA type A receptor-associated protein JBrowse link 10 56,601,288 56,604,223 RGD:8554872
G Gps2 G protein pathway suppressor 2 JBrowse link 10 56,524,327 56,527,447 RGD:8554872
G Kctd11 potassium channel tetramerization domain containing 11 JBrowse link 10 56,489,552 56,491,715 RGD:8554872
G Mapk1 mitogen activated protein kinase 1 JBrowse link 11 88,203,863 88,273,301 RGD:13592920
G Neurl4 neuralized E3 ubiquitin protein ligase 4 JBrowse link 10 56,511,861 56,524,233 RGD:8554872
G Nlgn2 neuroligin 2 JBrowse link 10 56,431,586 56,444,847 RGD:8554872
G Phf23 PHD finger protein 23 JBrowse link 10 56,605,078 56,609,236 RGD:8554872
G Plscr3 phospholipid scramblase 3 JBrowse link 10 56,452,632 56,458,390 RGD:8554872
G Polr2a RNA polymerase II subunit A JBrowse link 10 56,339,277 56,364,888 RGD:8554872
G Slc2a4 solute carrier family 2 member 4 JBrowse link 10 56,552,921 56,558,562 RGD:8554872
G Slc35g3 solute carrier family 35, member G3 JBrowse link 10 56,366,578 56,368,360 RGD:8554872
G Sox11 SRY-box transcription factor 11 JBrowse link 6 46,629,967 46,631,988 RGD:13592920
G Sox9 SRY-box transcription factor 9 JBrowse link 10 101,288,528 101,294,030 RGD:11554173
G Spem1 spermatid maturation 1 JBrowse link 10 56,428,447 56,429,748 RGD:8554872
G Spem2 SPEM family member 2 JBrowse link 10 56,424,164 56,426,012 RGD:8554872
G Tmem102 transmembrane protein 102 JBrowse link 10 56,410,898 56,413,154 RGD:8554872
G Tmem256 transmembrane protein 256 JBrowse link 10 56,446,022 56,447,138 RGD:8554872
G Tmem95 transmembrane protein 95 JBrowse link 10 56,486,778 56,488,723 RGD:8554872
G Tnk1 tyrosine kinase, non-receptor, 1 JBrowse link 10 56,458,650 56,475,183 RGD:8554872
G Tnnt3 troponin T3, fast skeletal type JBrowse link 1 215,666,628 215,683,628 RGD:8554872
G Ybx2 Y box binding protein 2 JBrowse link 10 56,546,689 56,552,339 RGD:8554872
G Zbtb4 zinc finger and BTB domain containing 4 JBrowse link 10 56,367,586 56,388,296 RGD:8554872
X-linked cleft palate with or without ankyloglossia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbx22 T-box transcription factor 22 JBrowse link X 78,731,738 78,782,542 RGD:7240710
RGD:8554872
Yunis-Varon syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fig4 FIG4 phosphoinositide 5-phosphatase JBrowse link 20 45,922,806 46,044,754 RGD:7240710
RGD:8554872
G Vac14 VAC14 component of PIKFYVE complex JBrowse link 19 40,927,007 41,029,206 RGD:8554872
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    Stomatognathic Diseases 870
      Stomatognathic System Abnormalities 308
        Maxillofacial Abnormalities 209
          Abruzzo Erickson Syndrome 1
          Ackerman Syndrome 0
          Binder syndrome 0
          Dentofacial Deformities 0
          Jaw Abnormalities + 206
          Maxillofacial Dysostosis 0
          Oculomaxillofacial Dysostosis 1
          autosomal recessive Robinow syndrome 2
          cherubism + 1
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        Congenital Abnormalities 3730
          Musculoskeletal Abnormalities 1340
            Craniofacial Abnormalities 1063
              Maxillofacial Abnormalities 209
                Abruzzo Erickson Syndrome 1
                Ackerman Syndrome 0
                Binder syndrome 0
                Dentofacial Deformities 0
                Jaw Abnormalities + 206
                Maxillofacial Dysostosis 0
                Oculomaxillofacial Dysostosis 1
                autosomal recessive Robinow syndrome 2
                cherubism + 1
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.