ONTOLOGY REPORT - ANNOTATIONS


Term:lip disease
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Accession:DOID:9297 term browser browse the term
Definition:Diseases involving the LIP.
Synonyms:exact_synonym: disease of lips;   lip diseases
 primary_id: MESH:D008047
 alt_id: RDO:0005185
For additional species annotation, visit the Alliance of Genome Resources.


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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
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
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
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 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:8554872
RGD:11554173
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 Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
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 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 neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase JBrowse link 18 60,392,376 60,719,720 RGD:11554173
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
RGD:8554872
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 22 JBrowse link X 78,731,738 78,782,542 RGD:724722
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 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 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
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
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
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
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
Lip Neoplasms term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdkn1a cyclin-dependent kinase inhibitor 1A JBrowse link 20 6,348,422 6,358,864 RGD:8662391
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:8662391
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 Irf6 interferon regulatory factor 6 JBrowse link 13 111,870,121 111,889,328 RGD:8554872
RGD:7240710
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 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
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cast calpastatin JBrowse link 2 1,452,111 1,561,669 RGD:8554872
RGD:7240710
G Erap1 endoplasmic reticulum aminopeptidase 1 JBrowse link 2 1,410,877 1,449,734 RGD:8554872
Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nedd4l neural precursor cell expressed, developmentally down-regulated 4-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
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
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
Uveal Coloboma, with Cleft Lip and Palate and Mental Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Yap1 yes-associated protein 1 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
X-linked cleft palate with or without ankyloglossia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbx22 T-box 22 JBrowse link X 78,731,738 78,782,542 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    sensory system disease 4265
      mouth disease 665
        lip disease 114
          Hamartomatous Lip 0
          Herpes Labialis 0
          Lip Neoplasms + 2
          Phlebectasia of Lips 0
          cheilitis + 2
          cleft lip + 50
          orofacial cleft + 110
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        sensory system disease 4265
          mouth disease 665
            lip disease 114
              Hamartomatous Lip 0
              Herpes Labialis 0
              Lip Neoplasms + 2
              Phlebectasia of Lips 0
              cheilitis + 2
              cleft lip + 50
              orofacial cleft + 110
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.