ONTOLOGY REPORT - ANNOTATIONS


Term:Congenital Limb Deformities
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Accession:DOID:9006294 term browser browse the term
Definition:Congenital structural deformities of the upper and lower extremities collectively or unspecified.
Synonyms:exact_synonym: Congenital Limb Deformity
 primary_id: MESH:D017880
 alt_id: RDO:0000305
For additional species annotation, visit the Alliance of Genome Resources.


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Congenital Limb Deformities 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:9068432
G Bmpr1b bone morphogenetic protein receptor type 1B JBrowse link 2 247,392,195 247,662,026 RGD:1334470
G Cacna1c calcium voltage-gated channel subunit alpha1 C JBrowse link 4 150,635,808 151,270,790 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:11554173
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:11554173
G Gpc6 glypican 6 JBrowse link 15 102,164,091 103,174,721 RGD:11554173
G Hapln1 hyaluronan and proteoglycan link protein 1 JBrowse link 2 18,354,542 18,419,077 RGD:11554173
G Hoxa11 homeobox A11 JBrowse link 4 82,296,888 82,301,419 RGD:11554173
G Hoxd11 homeobox D11 JBrowse link 3 61,604,256 61,606,874 RGD:11554173
G Hoxd12 homeo box D12 JBrowse link 3 61,597,382 61,598,503 RGD:11554173
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:11554173
G Irf6 interferon regulatory factor 6 JBrowse link 13 111,870,121 111,889,328 RGD:1600214
RGD:11554173
G Sall1 spalt-like transcription factor 1 JBrowse link 19 23,387,737 23,405,025 RGD:11554173
G Sall4 spalt-like transcription factor 4 JBrowse link 3 165,520,155 165,538,176 RGD:11554173
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:12801441
G Tbx3 T-box 3 JBrowse link 12 42,479,518 42,494,588 RGD:11554173
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:11554173
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:11554173
RGD:11568637
Aarskog syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgd1 FYVE, RhoGEF and PH domain containing 1 JBrowse link X 20,100,942 20,143,871 RGD:7240710
RGD:8554872
RGD:11554173
RGD:11554031
RGD:11554030
RGD:11554029
RGD:11554024
G Tsr2 TSR2, ribosome maturation factor JBrowse link X 20,141,406 20,146,082 RGD:8554872
Abruzzo Erickson Syndrome 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
Absence of Tibia with Polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmbr1 limb development membrane protein 1 JBrowse link 4 2,116,094 2,274,111 RGD:8554872
RGD:7240710
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:12801438
acheiropody term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmbr1 limb development membrane protein 1 JBrowse link 4 2,116,094 2,274,111 RGD:7240710
RGD:8554872
acrocapitofemoral dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ihh Indian hedgehog signaling molecule JBrowse link 9 82,208,223 82,214,440 RGD:1600033
RGD:8554872
RGD:7240710
acrocephalosyndactylia 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:11567243
RGD:11567271
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:7240710
RGD:8554872
RGD:12801488
RGD:12801475
RGD:12801474
RGD:12801413
RGD:11554173
RGD:8547743
G Twist1 twist family bHLH transcription factor 1 JBrowse link 6 53,401,241 53,403,235 RGD:1624353
RGD:11554173
Acromesomelic Dysplasia, Demirhan Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmpr1b bone morphogenetic protein receptor type 1B JBrowse link 2 247,392,195 247,662,026 RGD:7240710
RGD:11554173
RGD:8554872
Acromicric Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl2 ADAMTS-like 2 JBrowse link 3 5,624,473 5,654,890 RGD:11554173
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:7240710
RGD:8554872
G Smad2 SMAD family member 2 JBrowse link 18 72,550,107 72,612,078 RGD:11554173
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11554173
Adams-Oliver syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgap31 Rho GTPase activating protein 31 JBrowse link 11 64,600,968 64,714,114 RGD:8554872
RGD:11554173
G Dll4 delta like canonical Notch ligand 4 JBrowse link 3 111,135,011 111,146,746 RGD:8554872
RGD:11554173
G Dock6 dedicator of cytokinesis 6 JBrowse link 8 22,822,412 22,874,670 RGD:11554173
RGD:8554872
G Eogt EGF domain specific O-linked N-acetylglucosamine transferase JBrowse link 4 129,477,779 129,515,435 RGD:8554872
RGD:11554173
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:11554173
G Rbpj recombination signal binding protein for immunoglobulin kappa J region JBrowse link 14 59,657,738 59,865,427 RGD:11554173
Adams-Oliver Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgap31 Rho GTPase activating protein 31 JBrowse link 11 64,600,968 64,714,114 RGD:7240710
RGD:8554872
G Dock6 dedicator of cytokinesis 6 JBrowse link 8 22,822,412 22,874,670 RGD:8554872
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:8554872
Adams-Oliver Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dock6 dedicator of cytokinesis 6 JBrowse link 8 22,822,412 22,874,670 RGD:7240710
RGD:8554872
Adams-Oliver Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rbpj recombination signal binding protein for immunoglobulin kappa J region JBrowse link 14 59,657,738 59,865,427 RGD:7240710
RGD:8554872
Adams-Oliver Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eogt EGF domain specific O-linked N-acetylglucosamine transferase JBrowse link 4 129,477,779 129,515,435 RGD:7240710
RGD:8554872
Adams-Oliver Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:7240710
RGD:8554872
Adams-Oliver Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dll4 delta like canonical Notch ligand 4 JBrowse link 3 111,135,011 111,146,746 RGD:8554872
RGD:7240710
ADULT 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
Al Awadi Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wnt7a Wnt family member 7A JBrowse link 4 122,994,425 123,040,609 RGD:7240710
RGD:8554872
Arachnodactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:11554173
RGD:8554872
G Fzd4 frizzled class receptor 4 JBrowse link 1 153,589,471 153,598,376 RGD:11554173
asphyxiating thoracic dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B9d1 B9 domain containing 1 JBrowse link 10 47,784,294 47,794,399 RGD:8554872
G C2cd3 C2 calcium-dependent domain containing 3 JBrowse link 1 165,382,279 165,480,088 RGD:8554872
G Cep120 centrosomal protein 120 JBrowse link 18 48,658,495 48,720,570 RGD:11554173
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:8554872
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:11554173
RGD:8554872
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link 6 7,900,962 7,933,795 RGD:11554173
RGD:8554872
G Evc EvC ciliary complex subunit 1 JBrowse link 14 78,213,601 78,253,266 RGD:8554872
G Evc2 EvC ciliary complex subunit 2 JBrowse link 14 78,128,620 78,212,394 RGD:8554872
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:8554872
G Flvcr1 feline leukemia virus subgroup C cellular receptor 1 JBrowse link 13 109,624,167 109,629,609 RGD:8554872
G Fuz fuzzy planar cell polarity protein JBrowse link 1 100,891,832 100,896,811 RGD:8554872
G Ick intestinal cell kinase JBrowse link 8 85,413,998 85,473,374 RGD:8554872
G Ift140 intraflagellar transport 140 JBrowse link 10 14,373,668 14,461,509 RGD:11554173
RGD:8554872
G Ift172 intraflagellar transport 172 JBrowse link 6 26,390,686 26,485,459 RGD:11554173
RGD:8554872
G Ift43 intraflagellar transport 43 JBrowse link 6 109,939,323 110,016,646 RGD:8554872
G Ift52 intraflagellar transport 52 JBrowse link 3 159,388,868 159,413,358 RGD:11554173
RGD:8554872
G Ift74 intraflagellar transport 74 JBrowse link 5 113,579,065 113,682,485 RGD:8554872
G Ift80 intraflagellar transport 80 JBrowse link 2 165,506,878 165,600,748 RGD:8554872
G Ift81 intraflagellar transport 81 JBrowse link 12 39,420,161 39,507,412 RGD:8554872
G Ift88 intraflagellar transport 88 JBrowse link 15 37,690,417 37,786,855 RGD:8554872
G Intu inturned planar cell polarity protein JBrowse link 2 127,589,325 127,611,705 RGD:8554872
G Lbr lamin B receptor JBrowse link 13 100,431,390 100,450,209 RGD:8554872
G LOC690035 similar to Protein KIAA0586 JBrowse link 6 93,562,775 93,667,857 RGD:11554173
RGD:8554872
G Matn3 matrilin 3 JBrowse link 6 34,071,428 34,091,048 RGD:8554872
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:8554872
RGD:11554173
RGD:11069733
RGD:11072153
G RGD1304728 similar to 4933427D14Rik protein JBrowse link 10 58,726,721 58,776,718 RGD:8554872
G Sltm SAFB-like, transcription modulator JBrowse link 8 76,977,698 77,022,847 RGD:8554872
G Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` JBrowse link 4 95,884,020 95,945,248 RGD:13592920
G Smc4 structural maintenance of chromosomes 4 JBrowse link 2 165,600,934 165,629,415 RGD:8554872
G Tctex1d2 Tctex1 domain containing 2 JBrowse link 11 71,593,302 71,601,662 RGD:11554173
G Traf3ip1 TRAF3 interacting protein 1 JBrowse link 9 98,621,499 98,658,223 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:11554173
RGD:8554872
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:8554872
G Wdr34 WD repeat domain 34 JBrowse link 3 8,599,251 8,615,329 RGD:11554173
RGD:8554872
G Wdr35 WD repeat domain 35 JBrowse link 6 34,094,291 34,152,048 RGD:8554872
RGD:11554173
G Wdr60 WD repeat domain 60 JBrowse link 6 144,069,077 144,124,975 RGD:11554173
RGD:8554872
asphyxiating thoracic dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcg5 ATP binding cassette subfamily G member 5 JBrowse link 6 7,935,771 7,961,207 RGD:8554872
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link 6 7,900,962 7,933,795 RGD:8554872
G Ift140 intraflagellar transport 140 JBrowse link 10 14,373,668 14,461,509 RGD:8554872
RGD:13592920
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:11554173
asphyxiating thoracic dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift80 intraflagellar transport 80 JBrowse link 2 165,506,878 165,600,748 RGD:7240710
RGD:8554872
asphyxiating thoracic dystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs10 Bardet-Biedl syndrome 10 JBrowse link 7 54,030,229 54,034,354 RGD:8554872
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:8554872
RGD:7240710
G Fam98c family with sequence similarity 98, member C JBrowse link 1 88,095,240 88,098,828 RGD:8554872
G Ift80 intraflagellar transport 80 JBrowse link 2 165,506,878 165,600,748 RGD:13592920
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:8554872
G Tctex1d2 Tctex1 domain containing 2 JBrowse link 11 71,593,302 71,601,662 RGD:8554872
G Tmem256 transmembrane protein 256 JBrowse link 10 56,446,022 56,447,138 RGD:8554872
G Wdr34 WD repeat domain 34 JBrowse link 3 8,599,251 8,615,329 RGD:8554872
G Wdr60 WD repeat domain 60 JBrowse link 6 144,069,077 144,124,975 RGD:8554872
G Xpa XPA, DNA damage recognition and repair factor JBrowse link 5 61,749,767 61,793,641 RGD:8554872
asphyxiating thoracic dystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:7240710
RGD:8554872
asphyxiating thoracic dystrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:7240710
RGD:8554872
Atelosteogenesis Type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flnb filamin B JBrowse link 15 18,750,152 18,883,019 RGD:7240710
RGD:8554872
RGD:11554173
autosomal dominant Robinow syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dvl1 dishevelled segment polarity protein 1 JBrowse link 5 173,295,948 173,308,014 RGD:13592920
G Dvl3 dishevelled segment polarity protein 3 JBrowse link 11 84,051,177 84,068,479 RGD:13592920
G Ror2 receptor tyrosine kinase-like orphan receptor 2 JBrowse link 17 11,953,552 12,134,386 RGD:8554872
G Wnt5a Wnt family member 5A JBrowse link 16 4,469,451 4,490,271 RGD:7240710
autosomal dominant Robinow syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dvl1 dishevelled segment polarity protein 1 JBrowse link 5 173,295,948 173,308,014 RGD:8554872
RGD:7240710
G Dvl3 dishevelled segment polarity protein 3 JBrowse link 11 84,051,177 84,068,479 RGD:8554872
G Fzd2 frizzled class receptor 2 JBrowse link 10 90,550,147 90,552,057 RGD:8554872
autosomal dominant Robinow syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dvl3 dishevelled segment polarity protein 3 JBrowse link 11 84,051,177 84,068,479 RGD:8554872
RGD:7240710
G Fzd2 frizzled class receptor 2 JBrowse link 10 90,550,147 90,552,057 RGD:8554872
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
Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbln1 fibulin 1 JBrowse link 7 126,096,793 126,176,468 RGD:8554872
Beemer-Langer syndrome 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 Evc2 EvC ciliary complex subunit 2 JBrowse link 14 78,128,620 78,212,394 RGD:8554872
G Ift80 intraflagellar transport 80 JBrowse link 2 165,506,878 165,600,748 RGD:8554872
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:8554872
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:8554872
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dupd1 dual specificity phosphatase and pro isomerase domain containing 1 JBrowse link 15 2,766,929 2,806,573 RGD:8554872
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:9588484
RGD:8554872
RGD:7240710
brachydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atrx ATRX, chromatin remodeler JBrowse link X 76,820,110 76,979,155 RGD:9586033
G Bmpr1b bone morphogenetic protein receptor type 1B JBrowse link 2 247,392,195 247,662,026 RGD:8554872
G Chst11 carbohydrate sulfotransferase 11 JBrowse link 7 26,641,856 26,890,503 RGD:8554872
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:8554872
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:11554173
G Hdac4 histone deacetylase 4 JBrowse link 9 99,052,945 99,299,715 RGD:11554173
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:12743593
G Ihh Indian hedgehog signaling molecule JBrowse link 9 82,208,223 82,214,440 RGD:8554872
G Mefv MEFV innate immuity regulator, pyrin JBrowse link 10 12,045,813 12,056,229 RGD:8554872
G Nipbl NIPBL, cohesin loading factor JBrowse link 2 57,508,830 57,676,197 RGD:8554872
G Ppp2r1a protein phosphatase 2 scaffold subunit A alpha JBrowse link 1 60,717,386 60,736,629 RGD:8554872
G Ror2 receptor tyrosine kinase-like orphan receptor 2 JBrowse link 17 11,953,552 12,134,386 RGD:8554872
G Slc26a2 solute carrier family 26 member 2 JBrowse link 18 56,518,999 56,534,539 RGD:11072411
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:11554173
G Trps1 transcriptional repressor GATA binding 1 JBrowse link 7 90,085,895 90,320,430 RGD:8554872
brachydactyly type A1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:12437076
G Ihh Indian hedgehog signaling molecule JBrowse link 9 82,208,223 82,214,440 RGD:1600032
RGD:12910974
RGD:11535949
RGD:12910970
RGD:12910965
RGD:12910964
RGD:12910945
RGD:12910944
RGD:8554872
RGD:7240710
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:12798572
RGD:13592920
brachydactyly type A1C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:7240710
RGD:8554872
brachydactyly type A1D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmpr1b bone morphogenetic protein receptor type 1B JBrowse link 2 247,392,195 247,662,026 RGD:8554872
RGD:7240710
brachydactyly type A2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp2 bone morphogenetic protein 2 JBrowse link 3 126,335,963 126,346,771 RGD:7240710
RGD:8554872
G Bmpr1b bone morphogenetic protein receptor type 1B JBrowse link 2 247,392,195 247,662,026 RGD:7240710
RGD:8554872
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:7240710
RGD:8554872
brachydactyly type A4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:12738470
brachydactyly type B1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ror2 receptor tyrosine kinase-like orphan receptor 2 JBrowse link 17 11,953,552 12,134,386 RGD:7240710
RGD:8554872
RGD:11537345
RGD:11535953
RGD:11535952
RGD:11535951
RGD:11535949
brachydactyly type B2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nog noggin JBrowse link 10 76,811,759 76,813,386 RGD:7240710
RGD:12801483
RGD:12801481
RGD:8554872
brachydactyly type C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:7240710
RGD:12738202
RGD:12738200
RGD:12437083
RGD:8554872
brachydactyly type D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:7240710
RGD:11554173
RGD:8554872
brachydactyly type E1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:7240710
RGD:8554872
RGD:11554173
brachydactyly type E2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pthlh parathyroid hormone-like hormone JBrowse link 4 181,663,425 181,674,181 RGD:7240710
RGD:8554872
Brachydactyly with Hypertension term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pde3a phosphodiesterase 3A JBrowse link 4 175,431,904 175,703,844 RGD:7240710
RGD:11554173
RGD:8554872
Brachydactyly, Type E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hdac4 histone deacetylase 4 JBrowse link 9 99,052,945 99,299,715 RGD:11554173
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:12743596
brachydactyly-syndactyly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:7240710
RGD:8554872
RGD:11554173
camptodactyly-arthropathy-coxa vara-pericarditis syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prg4 proteoglycan 4 JBrowse link 13 67,672,588 67,688,902 RGD:7240710
RGD:8554872
RGD:11554173
camptodactyly-tall stature-scoliosis-hearing loss syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:7240710
RGD:8554872
Camptosynpolydactyly, Complex term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bhlha9 basic helix-loop-helix family, member a9 JBrowse link 10 63,498,267 63,500,353 RGD:7240710
CAPOS Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 1 81,852,423 81,881,565 RGD:11576280
RGD:8554872
RGD:7240710
Carpenter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Megf8 multiple EGF-like-domains 8 JBrowse link 1 82,184,671 82,234,045 RGD:11554173
G Rab23 RAB23, member RAS oncogene family JBrowse link 9 38,469,784 38,496,185 RGD:8554872
RGD:11554173
Carpenter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab23 RAB23, member RAS oncogene family JBrowse link 9 38,469,784 38,496,185 RGD:7240710
RGD:8554872
Carpenter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Megf8 multiple EGF-like-domains 8 JBrowse link 1 82,184,671 82,234,045 RGD:7240710
RGD:8554872
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
Cenani-Lenz syndactyly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp4 LDL receptor related protein 4 JBrowse link 3 80,362,643 80,416,684 RGD:7240710
RGD:8554872
CHILD Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nsdhl NAD(P) dependent steroid dehydrogenase-like JBrowse link X 152,933,118 152,964,399 RGD:7240710
RGD:11554173
RGD:8554872
CHITAYAT SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Erf Ets2 repressor factor JBrowse link 1 82,112,449 82,120,902 RGD:8554872
RGD:7240710
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hdac6 histone deacetylase 6 JBrowse link X 15,295,372 15,316,673 RGD:7240710
RGD:8554872
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
Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Runx2 runt-related transcription factor 2 JBrowse link 9 18,564,743 18,773,092 RGD:8554872
clubfoot term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars alanyl-tRNA synthetase JBrowse link 19 43,193,264 43,215,281 RGD:8554872
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:8554872
G Chst14 carbohydrate sulfotransferase 14 JBrowse link 3 110,734,105 110,736,162 RGD:11554173
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 JBrowse link 8 62,472,087 62,478,122 RGD:11576307
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) JBrowse link 13 78,857,638 78,885,464 RGD:8554872
G Fkbp8 FKBP prolyl isomerase 8 JBrowse link 16 20,645,956 20,652,890 RGD:13592920
G Flnb filamin B JBrowse link 15 18,750,152 18,883,019 RGD:12791025
G Fras1 Fraser extracellular matrix complex subunit 1 JBrowse link 14 14,438,392 14,853,016 RGD:13592920
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:12738235
G Grip1 glutamate receptor interacting protein 1 JBrowse link 7 64,672,723 64,854,939 RGD:13592920
G Hoxd12 homeo box D12 JBrowse link 3 61,597,382 61,598,503 RGD:12743594
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:12743594
G Inpp5e inositol polyphosphate-5-phosphatase E JBrowse link 3 3,843,307 3,856,154 RGD:8554872
G Lmx1b LIM homeobox transcription factor 1 beta JBrowse link 3 12,608,748 12,686,937 RGD:11554173
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:11554173
G Pitx1 paired-like homeodomain 1 JBrowse link 17 8,873,184 8,884,428 RGD:7240710
RGD:8554872
G Pkd1 polycystin 1, transient receptor potential channel interacting JBrowse link 10 13,914,057 13,962,008 RGD:8554872
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 JBrowse link 8 99,977,334 100,059,736 RGD:8554872
G Ret ret proto-oncogene JBrowse link 4 150,202,170 150,249,196 RGD:13592920
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 JBrowse link 1 219,126,687 219,139,466 RGD:13592920
G Tnfrsf13b TNF receptor superfamily member 13B JBrowse link 10 47,399,834 47,422,907 RGD:8554872
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
G Vangl1 VANGL planar cell polarity protein 1 JBrowse link 2 204,575,592 204,625,835 RGD:8554872
cocoon syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chuk component of inhibitor of nuclear factor kappa B kinase complex JBrowse link 1 263,848,829 263,884,354 RGD:7240710
RGD:8554872
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 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 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
cold-induced sweating syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcf1 cardiotrophin-like cytokine factor 1 JBrowse link 1 219,468,866 219,472,445 RGD:11554173
G Crlf1 cytokine receptor-like factor 1 JBrowse link 16 20,675,042 20,686,365 RGD:11554173
G Klhl7 kelch-like family member 7 JBrowse link 4 7,532,881 7,582,032 RGD:11554173
cold-induced sweating syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crlf1 cytokine receptor-like factor 1 JBrowse link 16 20,675,042 20,686,365 RGD:7240710
RGD:8554872
G Klhl7 kelch-like family member 7 JBrowse link 4 7,532,881 7,582,032 RGD:8554872
cold-induced sweating syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcf1 cardiotrophin-like cytokine factor 1 JBrowse link 1 219,468,866 219,472,445 RGD:7240710
RGD:8554872
cold-induced sweating syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klhl7 kelch-like family member 7 JBrowse link 4 7,532,881 7,582,032 RGD:8554872
RGD:7240710
Congenital Contractural Arachnodactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn2 fibrillin 2 JBrowse link 18 53,068,495 53,272,254 RGD:1300364
RGD:8554872
RGD:7240710
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nalcn sodium leak channel, non-selective JBrowse link 15 109,734,092 110,046,729 RGD:8554872
RGD:7240710
Congenital Foot Deformities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgd1 FYVE, RhoGEF and PH domain containing 1 JBrowse link X 20,100,942 20,143,871 RGD:11554173
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:11098154
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:11554173
G Pthlh parathyroid hormone-like hormone JBrowse link 4 181,663,425 181,674,181 RGD:11554173
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:11554173
Congenital Hand Deformities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl2 ADAMTS-like 2 JBrowse link 3 5,624,473 5,654,890 RGD:11554173
G Bmpr1a bone morphogenetic protein receptor type 1A JBrowse link 16 10,758,278 10,852,170 RGD:8554872
G L1cam L1 cell adhesion molecule JBrowse link X 156,901,244 156,928,064 RGD:11554173
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:11554173
G Pax3 paired box 3 JBrowse link 9 84,004,004 84,101,226 RGD:11554173
G Pthlh parathyroid hormone-like hormone JBrowse link 4 181,663,425 181,674,181 RGD:11554173
G Sox9 SRY box 9 JBrowse link 10 101,288,528 101,294,030 RGD:11554173
G Tfap2b transcription factor AP-2 beta JBrowse link 9 25,410,669 25,440,568 RGD:11554173
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:11554173
Crossed Polydactyly, Type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:12738209
Culler-Jones syndrome 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:7240710
RGD:8554872
Desbuquois dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cant1 calcium activated nucleotidase 1 JBrowse link 10 107,432,500 107,445,634 RGD:8554872
RGD:11554173
G Xylt1 xylosyltransferase 1 JBrowse link 1 186,939,698 187,264,758 RGD:11554173
Desbuquois Dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cant1 calcium activated nucleotidase 1 JBrowse link 10 107,432,500 107,445,634 RGD:7240710
RGD:8554872
G Xylt1 xylosyltransferase 1 JBrowse link 1 186,939,698 187,264,758 RGD:8554872
Desbuquois Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Xylt1 xylosyltransferase 1 JBrowse link 1 186,939,698 187,264,758 RGD:8554872
RGD:7240710
Digital Arthropathy-Brachydactyly, Familial term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:7240710
RGD:8554872
Digitorenocerebral Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:7240710
RGD:8554872
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh3 cadherin 3 JBrowse link 19 38,668,957 38,719,801 RGD:7240710
RGD:8554872
Ectodermal Dysplasia-Syndactyly Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nectin4 nectin cell adhesion molecule 4 JBrowse link 13 89,755,665 89,774,185 RGD:7240710
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
Ectromelia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wnt3 Wnt family member 3 JBrowse link 10 91,830,709 91,874,907 RGD:1599852
Ehlers-Danlos Syndrome, Musculocontractural Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dse dermatan sulfate epimerase JBrowse link 20 27,703,738 27,784,982 RGD:7240710
RGD:8554872
Eiken Skeletal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pth1r parathyroid hormone 1 receptor JBrowse link 8 118,984,531 119,012,803 RGD:8554872
RGD:7240710
RGD:12910707
Feingold syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mycn MYCN proto-oncogene, bHLH transcription factor JBrowse link 6 38,222,554 38,228,419 RGD:8554872
RGD:11554173
Feingold Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mycn MYCN proto-oncogene, bHLH transcription factor JBrowse link 6 38,222,554 38,228,419 RGD:8554872
RGD:7240710
fibular hypoplasia and complex brachydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:7240710
RGD:12437084
RGD:8554872
Filippi Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ckap2l cytoskeleton associated protein 2-like JBrowse link 3 121,796,221 121,822,352 RGD:8554872
RGD:7240710
Fitzsimmons-Guilbert Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbl1xr1 transducin (beta)-like 1 X-linked receptor 1 JBrowse link 2 107,221,913 107,359,229 RGD:8554872
Flatfoot term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aifm1 apoptosis inducing factor, mitochondria associated 1 JBrowse link X 135,304,063 135,343,062 RGD:8554872
G Hoxd10 homeo box D10 JBrowse link 3 61,614,133 61,617,342 RGD:11554173
G Kif4a kinesin family member 4A JBrowse link X 70,461,700 70,561,084 RGD:8554872
G Rab33a RAB33A, member RAS oncogene family JBrowse link X 135,348,799 135,360,204 RGD:8554872
Fraser syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fras1 Fraser extracellular matrix complex subunit 1 JBrowse link 14 14,438,392 14,853,016 RGD:11554173
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:13592920
G Frem2 FRAS1 related extracellular matrix 2 JBrowse link 2 142,747,501 142,885,604 RGD:11554173
RGD:8554872
G Grip1 glutamate receptor interacting protein 1 JBrowse link 7 64,672,723 64,854,939 RGD:8554872
RGD:13592920
Fraser Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fras1 Fraser extracellular matrix complex subunit 1 JBrowse link 14 14,438,392 14,853,016 RGD:1598960
RGD:8554872
RGD:7240710
G Frem2 FRAS1 related extracellular matrix 2 JBrowse link 2 142,747,501 142,885,604 RGD:8554872
G Grip1 glutamate receptor interacting protein 1 JBrowse link 7 64,672,723 64,854,939 RGD:8554872
Fraser Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frem2 FRAS1 related extracellular matrix 2 JBrowse link 2 142,747,501 142,885,604 RGD:13464328
RGD:8554872
RGD:7240710
G Frem2fpl Fras1 related extracellular matrix protein 2;fpl mutant RGD:13464328
Fraser Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grip1 glutamate receptor interacting protein 1 JBrowse link 7 64,672,723 64,854,939 RGD:8554872
RGD:7240710
Fuhrmann syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wnt7a Wnt family member 7A JBrowse link 4 122,994,425 123,040,609 RGD:7240710
RGD:8554872
Geleophysic Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl2 ADAMTS-like 2 JBrowse link 3 5,624,473 5,654,890 RGD:8554872
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
Geleophysic Dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl2 ADAMTS-like 2 JBrowse link 3 5,624,473 5,654,890 RGD:7240710
RGD:8554872
Geleophysic Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:7240710
RGD:8554872
Geleophysic Dysplasia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbp3 latent transforming growth factor beta binding protein 3 JBrowse link 1 221,099,155 221,116,096 RGD:8554872
RGD:7240710
Genee-Wiedemann Syndrome 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
Gillessen-Kaesbach-Nishimura Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg9 ALG9, alpha-1,2-mannosyltransferase JBrowse link 8 55,202,140 55,265,478 RGD:8554872
RGD:7240710
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
Greig cephalopolysyndactyly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:7240710
RGD:8554872
RGD:12738222
RGD:12738208
RGD:12738205
RGD:12738141
RGD:11554173
Growth Mental Deficiency Syndrome of Myhre term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:7240710
RGD:8554872
RGD:12880042
RGD:11554173
hand-foot-genital syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxa13 homeo box A13 RGD:1599526
RGD:11554173
RGD:8554872
RGD:7240710
Heart-Hand Syndrome, Slovenian Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:7240710
RGD:8554872
holoprosencephaly 9 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: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
Holt-Oram 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:11556209
RGD:11554173
G Tbx5 T-box 5 JBrowse link 12 42,059,688 42,148,226 RGD:7240710
RGD:8554872
RGD:11554173
RGD:1578428
RGD:7327219
RGD:7327217
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:8554872
hydrolethalus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hyls1 HYLS1, centriolar and ciliogenesis associated JBrowse link 8 36,763,470 36,772,199 RGD:8554872
RGD:13592920
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:11554173
G Pus3 pseudouridine synthase 3 JBrowse link 8 36,760,874 36,769,167 RGD:8554872
Hydrolethalus Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hyls1 HYLS1, centriolar and ciliogenesis associated JBrowse link 8 36,763,470 36,772,199 RGD:7240710
RGD:8554872
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:11554173
G Pus3 pseudouridine synthase 3 JBrowse link 8 36,760,874 36,769,167 RGD:8554872
Hydrolethalus Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:7240710
RGD:8554872
hypochondroplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:7240710
RGD:8554872
RGD:11568026
Hypoplasia of Tibia with Polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmbr1 limb development membrane protein 1 JBrowse link 4 2,116,094 2,274,111 RGD:8554872
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Otud6b OTU domain containing 6B JBrowse link 5 28,333,019 28,350,093 RGD:8554872
RGD:7240710
Jackson-Weiss Syndrome 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:7240710
RGD:8554872
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:7240710
RGD:8554872
RGD:12801470
Kaufman Oculocerebrofacial Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Faxc failed axon connections homolog, metaxin like GST domain containing JBrowse link 5 36,076,565 36,135,884 RGD:8554872
G Frem2 FRAS1 related extracellular matrix 2 JBrowse link 2 142,747,501 142,885,604 RGD:8554872
G Slc25a47 solute carrier family 25, member 47 JBrowse link 6 132,762,306 132,767,940 RGD:8554872
G Slc6a9 solute carrier family 6 member 9 JBrowse link 5 136,669,674 136,703,702 RGD:8554872
G Trpc4 transient receptor potential cation channel, subfamily C, member 4 JBrowse link 2 143,433,102 143,605,757 RGD:8554872
G Ube3b ubiquitin protein ligase E3B JBrowse link 12 47,946,691 47,991,973 RGD:8554872
RGD:7240710
RGD:11554173
Keutel Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mgp matrix Gla protein JBrowse link 4 170,856,783 170,860,105 RGD:1600783
RGD:8554872
RGD:11554173
RGD:7240710
LADD syndrome 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:7240710
RGD:8554872
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:7240710
RGD:8554872
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:7240710
RGD:8554872
Laurin-Sandrow Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmbr1 limb development membrane protein 1 JBrowse link 4 2,116,094 2,274,111 RGD:7240710
RGD:8554872
Limb-Mammary 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:11568638
RGD:11554173
RGD:8554872
Lower Extremity Deformities, Congenital term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxd10 homeo box D10 JBrowse link 3 61,614,133 61,617,342 RGD:11554173
G Pcsk5 proprotein convertase subtilisin/kexin type 5 JBrowse link 1 236,031,988 236,313,858 RGD:11554173
Marden Walker Like Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scarf2 scavenger receptor class F, member 2 JBrowse link 11 87,722,350 87,733,734 RGD:7240710
RGD:8554872
Marden-Walker 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
McKusick Kaufman Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mkks McKusick-Kaufman syndrome JBrowse link 3 129,866,542 129,885,213 RGD:7240710
RGD:8554872
Meckel syndrome 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem107 transmembrane protein 107 JBrowse link 10 55,653,694 55,656,270 RGD:8554872
RGD:7240710
Meckel syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:7240710
RGD:8554872
RGD:11070805
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt3 AKT serine/threonine kinase 3 JBrowse link 13 95,076,308 95,348,913 RGD:11554173
RGD:8554872
G Ccnd2 cyclin D2 JBrowse link 4 159,674,885 159,697,207 RGD:11554173
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
RGD:11554173
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 JBrowse link 16 20,415,109 20,424,982 RGD:8554872
RGD:11554173
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 JBrowse link 16 20,415,109 20,424,982 RGD:7240710
RGD:8554872
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt3 AKT serine/threonine kinase 3 JBrowse link 13 95,076,308 95,348,913 RGD:7240710
RGD:8554872
G Cep170 centrosomal protein 170 JBrowse link 13 94,807,090 94,887,448 RGD:8554872
G LOC689766 hypothetical protein LOC689766 JBrowse link 13 95,885,189 95,908,003 RGD:8554872
G Pld5 phospholipase D family, member 5 JBrowse link 13 94,025,696 94,355,219 RGD:8554872
G Sdccag8 serologically defined colon cancer antigen 8 JBrowse link 13 94,888,046 95,100,833 RGD:8554872
G Zbtb18 zinc finger and BTB domain containing 18 JBrowse link 13 95,582,234 95,593,316 RGD:8554872
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccnd2 cyclin D2 JBrowse link 4 159,674,885 159,697,207 RGD:7240710
RGD:8554872
Megalodactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
Metacarpal 4 5 Fusion term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf16 fibroblast growth factor 16 JBrowse link X 76,786,728 76,796,311 RGD:7240710
RGD:8554872
Metaphyseal Anadysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmp13 matrix metallopeptidase 13 JBrowse link 8 5,522,739 5,533,018 RGD:8554872
RGD:13204811
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:8554872
RGD:13204811
Metaphyseal Anadysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmp13 matrix metallopeptidase 13 JBrowse link 8 5,522,739 5,533,018 RGD:8554872
Metaphyseal Anadysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:7240710
RGD:8554872
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Runx2 runt-related transcription factor 2 JBrowse link 9 18,564,743 18,773,092 RGD:8554872
RGD:11554173
G Supt3h SPT3 homolog, SAGA and STAGA complex component JBrowse link 9 18,249,565 18,604,814 RGD:8554872
Microcephaly with Mental Retardation and Digital Anomalies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rbbp8 RB binding protein 8, endonuclease JBrowse link 18 3,134,630 3,227,702 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
Microphthalmia, Syndromic 6 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
Multiple Synostoses Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf9 fibroblast growth factor 9 JBrowse link 15 38,341,657 38,386,945 RGD:8554872
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:8554872
RGD:12738199
G Nog noggin JBrowse link 10 76,811,759 76,813,386 RGD:1600234
RGD:8554872
RGD:12801467
RGD:7240710
Nasodigitoacoustic Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpc4 glypican 4 JBrowse link X 139,354,325 139,464,876 RGD:8554872
Neu-Laxova syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phgdh phosphoglycerate dehydrogenase JBrowse link 2 200,484,245 200,513,564 RGD:7240710
RGD:8554872
G Psat1 phosphoserine aminotransferase 1 JBrowse link 1 233,124,089 233,145,941 RGD:11554173
Nicolaides Baraitser Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
G Cdkl5 cyclin-dependent kinase-like 5 JBrowse link X 35,536,396 35,773,204 RGD:8554872
G Rs1 retinoschisin 1 JBrowse link X 35,749,957 35,777,243 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:7240710
RGD:8554872
RGD:11554173
oculodentodigital dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:1578474
RGD:8554872
RGD:12910132
RGD:8662400
RGD:8662375
RGD:8662372
RGD:7240710
Oculodentodigital Dysplasia, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:7240710
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
Ohdo syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:11554173
Ohdo Syndrome, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:7240710
RGD:8554872
RGD:12910951
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
Orstavik Lindemann Solberg Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdpcp WD repeat containing planar cell polarity effector JBrowse link 14 106,393,959 106,759,511 RGD:8554872
RGD:7240710
Oto-Palato-Digital Syndrome Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:7240710
RGD:8554872
RGD:1598954
RGD:11554173
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:11554173
Oto-Palato-Digital Syndrome, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:7240710
RGD:8554872
RGD:1598954
RGD:11554173
Otopalatodigital Spectrum Disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
RGD:11565126
Pallister-Hall syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:1599838
RGD:8554872
RGD:7240710
RGD:11554173
RGD:12738143
RGD:12738205
RGD:12738222
Penttinen-Aula Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdgfrb platelet derived growth factor receptor beta JBrowse link 18 56,364,586 56,406,381 RGD:7240710
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
Pfeiffer syndrome 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:7240710
RGD:8554872
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:7240710
RGD:8554872
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 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:11667102
polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb6 ATP binding cassette subfamily B member 6 JBrowse link 9 82,373,950 82,382,228 RGD:8554872
G Alx4 ALX homeobox 4 JBrowse link 3 82,548,959 82,585,531 RGD:11554173
G Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 JBrowse link 9 82,393,619 82,400,537 RGD:8554872
G Asic4 acid sensing ion channel subunit family member 4 JBrowse link 9 82,647,071 82,668,920 RGD:8554872
G Atg9a autophagy related 9A JBrowse link 9 82,382,800 82,393,429 RGD:8554872
G Bbs12 Bardet-Biedl syndrome 12 JBrowse link 2 124,048,513 124,057,026 RGD:8554872
G Chpf chondroitin polymerizing factor JBrowse link 9 82,669,199 82,673,898 RGD:8554872
G Cnppd1 cyclin Pas1/PHO80 domain containing 1 JBrowse link 9 82,338,865 82,345,262 RGD:8554872
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:8554872
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 JBrowse link 9 82,436,453 82,444,669 RGD:8554872
G Dnpep aspartyl aminopeptidase JBrowse link 9 82,505,529 82,514,399 RGD:8554872
G Glb1l galactosidase, beta 1-like JBrowse link 9 82,400,457 82,410,970 RGD:8554872
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:11554173
RGD:8554872
RGD:12801421
RGD:12738225
RGD:12738144
RGD:12738140
G Gmppa GDP-mannose pyrophosphorylase A JBrowse link 9 82,632,267 82,639,811 RGD:8554872
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:12738144
RGD:8554872
G Ift80 intraflagellar transport 80 JBrowse link 2 165,506,878 165,600,748 RGD:11554173
G Ift88 intraflagellar transport 88 JBrowse link 15 37,690,417 37,786,855 RGD:11554173
G Inha inhibin subunit alpha JBrowse link 9 82,700,482 82,703,383 RGD:8554872
G Kif3a kinesin family member 3a JBrowse link 10 38,918,705 38,953,958 RGD:11554173
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:8554872
G Lmbr1 limb development membrane protein 1 JBrowse link 4 2,116,094 2,274,111 RGD:13592920
G LOC690035 similar to Protein KIAA0586 JBrowse link 6 93,562,775 93,667,857 RGD:11554173
G Mipol1 mirror-image polydactyly 1 JBrowse link 6 78,172,842 78,506,232 RGD:11554173
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:8554872
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:8554872
G Nhej1 nonhomologous end-joining factor 1 JBrowse link 9 82,230,230 82,327,923 RGD:8554872
G Obsl1 obscurin-like 1 JBrowse link 9 82,673,871 82,699,577 RGD:8554872
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:8554872
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L JBrowse link 10 48,774,018 48,831,848 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:11554173
G Ptprn protein tyrosine phosphatase, receptor type, N JBrowse link 9 82,446,626 82,462,314 RGD:8554872
G Resp18 regulated endocrine-specific protein 18 JBrowse link 9 82,470,794 82,477,136 RGD:8554872
G Retreg2 reticulophagy regulator family member 2 JBrowse link 9 82,345,686 82,351,800 RGD:8554872
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:12801421
RGD:12801449
RGD:12801429
G Slc23a3 solute carrier family 23, member 3 JBrowse link 9 82,328,007 82,338,576 RGD:8554872
G Slc4a3 solute carrier family 4 member 3 JBrowse link 9 82,742,207 82,755,119 RGD:8554872
G Speg striated muscle enriched protein kinase JBrowse link 9 82,571,333 82,628,684 RGD:8554872
G Stk11ip serine/threonine kinase 11 interacting protein JBrowse link 9 82,718,343 82,733,894 RGD:8554872
G Stk16 serine/threonine kinase 16 JBrowse link 9 82,411,010 82,414,249 RGD:8554872
G Tmem198 transmembrane protein 198 JBrowse link 9 82,673,959 82,680,151 RGD:8554872
G Tuba4a tubulin, alpha 4A JBrowse link 9 82,415,599 82,419,918 RGD:8554872
G Zbtb16 zinc finger and BTB domain containing 16 JBrowse link 8 52,980,226 53,146,765 RGD:2312786
G Zbtb16Lx zinc finger and BTB domain containing 16, Lx mutant RGD:2312786
G Zfand2b zinc finger AN1-type containing 2B JBrowse link 9 82,370,887 82,373,843 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 Polydactyly, Type A1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccnd2 cyclin D2 JBrowse link 4 159,674,885 159,697,207 RGD:11554173
G Fam92a family with sequence similarity 92 member A JBrowse link 5 25,732,457 25,750,953 RGD:11554173
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:7240710
RGD:8554872
RGD:12738223
RGD:12738211
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:11073359
Postaxial Polydactyly, Type A7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iqce IQ motif containing E JBrowse link 12 16,030,607 16,069,872 RGD:8554872
RGD:7240710
Postaxial Polydactyly, Type A8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gli1 GLI family zinc finger 1 JBrowse link 7 70,620,794 70,633,171 RGD:8554872
RGD:7240710
Postaxial Polydactyly, Type A9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam92a family with sequence similarity 92 member A JBrowse link 5 25,732,457 25,750,953 RGD:8554872
RGD:7240710
Preaxial Deficiency, Postaxial Polydactyly and Hypospadias term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxa13 homeo box A13 RGD:7240710
RGD:11554173
RGD:8554872
Preaxial Polydactyly II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmbr1 limb development membrane protein 1 JBrowse link 4 2,116,094 2,274,111 RGD:7240710
RGD:8554872
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:12801447
RGD:12801448
Preaxial Polydactyly, 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:7240710
RGD:8554872
RGD:12738221
RGD:12738141
G Zic3 Zic family member 3 JBrowse link X 140,875,191 140,888,344 RGD:12738220
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:8554872
Proteus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt1 AKT serine/threonine kinase 1 JBrowse link 6 137,218,398 137,239,970 RGD:5509063
RGD:8554872
RGD:7240710
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:11554173
RGD:8554872
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 JBrowse link 4 116,261,796 116,278,615 RGD:7240710
RGD:8554872
rapadilino syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Recql4 RecQ like helicase 4 JBrowse link 7 117,765,892 117,773,128 RGD:7240710
RGD:8554872
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
Roberts syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 JBrowse link 15 42,500,929 42,519,019 RGD:7240710
RGD:8554872
RGD:11554173
RGD:11535978
RGD:11535977
Robinow Sorauf Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twist1 twist family bHLH transcription factor 1 JBrowse link 6 53,401,241 53,403,235 RGD:7240710
RGD:8554872
Robinow syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnaaf4 dynein axonemal assembly factor 4 JBrowse link 8 79,637,678 79,651,892 RGD:13592920
G Dvl1 dishevelled segment polarity protein 1 JBrowse link 5 173,295,948 173,308,014 RGD:11554173
G Dvl3 dishevelled segment polarity protein 3 JBrowse link 11 84,051,177 84,068,479 RGD:8554872
RGD:11554173
G Ror2 receptor tyrosine kinase-like orphan receptor 2 JBrowse link 17 11,953,552 12,134,386 RGD:8554872
G Wnt5a Wnt family member 5A JBrowse link 16 4,469,451 4,490,271 RGD:8554872
RGD:11554173
Saethre-Chotzen syndrome 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:8554872
RGD:7240710
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:8554872
G Twist1 twist family bHLH transcription factor 1 JBrowse link 6 53,401,241 53,403,235 RGD:8554872
RGD:7240710
RGD:11554173
Saldino-Noonan syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:8554872
G Xpa XPA, DNA damage recognition and repair factor JBrowse link 5 61,749,767 61,793,641 RGD:8554872
Schinzel-Giedion Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Setbp1 SET binding protein 1 JBrowse link 18 75,090,733 75,432,446 RGD:7240710
RGD:8554872
RGD:11554173
sclerosteosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp4 LDL receptor related protein 4 JBrowse link 3 80,362,643 80,416,684 RGD:11554173
G Sost sclerostin JBrowse link 10 89,897,087 89,900,131 RGD:68858
RGD:11554173
RGD:8554872
sclerosteosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sost sclerostin JBrowse link 10 89,897,087 89,900,131 RGD:8554872
RGD:7240710
sclerosteosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp4 LDL receptor related protein 4 JBrowse link 3 80,362,643 80,416,684 RGD:7240710
RGD:8554872
short-rib thoracic dysplasia 10 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift172 intraflagellar transport 172 JBrowse link 6 26,390,686 26,485,459 RGD:7240710
RGD:8554872
G Krtcap3 keratinocyte associated protein 3 JBrowse link 6 26,485,126 26,486,695 RGD:8554872
short-rib thoracic dysplasia 11 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sptan1 spectrin, alpha, non-erythrocytic 1 JBrowse link 3 8,534,437 8,599,259 RGD:8554872
G Wdr34 WD repeat domain 34 JBrowse link 3 8,599,251 8,615,329 RGD:7240710
RGD:8554872
short-rib thoracic dysplasia 13 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep120 centrosomal protein 120 JBrowse link 18 48,658,495 48,720,570 RGD:7240710
RGD:8554872
short-rib thoracic dysplasia 14 with polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC690035 similar to Protein KIAA0586 JBrowse link 6 93,562,775 93,667,857 RGD:8554872
RGD:7240710
Short-Rib Thoracic Dysplasia 15 with Polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcg5 ATP binding cassette subfamily G member 5 JBrowse link 6 7,935,771 7,961,207 RGD:8554872
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link 6 7,900,962 7,933,795 RGD:8554872
RGD:7240710
Short-Rib Thoracic Dysplasia 16 with or without Polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift52 intraflagellar transport 52 JBrowse link 3 159,388,868 159,413,358 RGD:8554872
RGD:7240710
Short-Rib Thoracic Dysplasia 17 with or without Polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tctex1d2 Tctex1 domain containing 2 JBrowse link 11 71,593,302 71,601,662 RGD:8554872
RGD:7240710
short-rib thoracic dysplasia 18 with polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift43 intraflagellar transport 43 JBrowse link 6 109,939,323 110,016,646 RGD:8554872
RGD:7240710
short-rib thoracic dysplasia 19 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift81 intraflagellar transport 81 JBrowse link 12 39,420,161 39,507,412 RGD:8554872
RGD:7240710
Short-Rib Thoracic Dysplasia 20 with Polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Intu inturned planar cell polarity protein JBrowse link 2 127,589,325 127,611,705 RGD:8554872
RGD:7240710
G Wdr35 WD repeat domain 35 JBrowse link 6 34,094,291 34,152,048 RGD:8554872
short-rib thoracic dysplasia 6 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:8554872
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:7240710
RGD:8554872
G Xpa XPA, DNA damage recognition and repair factor JBrowse link 5 61,749,767 61,793,641 RGD:8554872
short-rib thoracic dysplasia 7 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr35 WD repeat domain 35 JBrowse link 6 34,094,291 34,152,048 RGD:7240710
RGD:8554872
short-rib thoracic dysplasia 8 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr60 WD repeat domain 60 JBrowse link 6 144,069,077 144,124,975 RGD:7240710
RGD:8554872
short-rib thoracic dysplasia 9 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift140 intraflagellar transport 140 JBrowse link 10 14,373,668 14,461,509 RGD:7240710
RGD:8554872
Shprintzen Golberg Craniosynostosis 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
G Ski SKI proto-oncogene JBrowse link 5 172,556,196 172,623,878 RGD:7240710
RGD:8554872
RGD:11554173
split hand-foot malformation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Btrc beta-transducin repeat containing E3 ubiquitin protein ligase JBrowse link 1 265,100,094 265,270,263 RGD:8554872
G Dlx5 distal-less homeobox 5 JBrowse link 4 32,387,741 32,392,085 RGD:8554872
G Dpcd deleted in primary ciliary dyskinesia JBrowse link 1 265,298,872 265,318,521 RGD:8554872
G Fbxw4 F-box and WD repeat domain containing 4 JBrowse link 1 265,318,526 265,420,503 RGD:8554872
G Lbx1 ladybird homeobox 1 JBrowse link 1 264,973,315 264,975,132 RGD:8554872
G Map3k20 mitogen-activated protein kinase kinase kinase 20 JBrowse link 3 58,965,025 59,120,507 RGD:8554872
RGD:13592920
G Plaa phospholipase A2, activating protein JBrowse link 5 113,548,913 113,578,928 RGD:8554872
G Poll DNA polymerase lambda JBrowse link 1 265,290,337 265,298,847 RGD:8554872
G Tlx1 T-cell leukemia, homeobox 1 JBrowse link 1 264,893,033 264,899,424 RGD:8554872
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:8554872
split hand-foot malformation 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dlx5 distal-less homeobox 5 JBrowse link 4 32,387,741 32,392,085 RGD:13592920
G Dlx6 distal-less homeobox 6 JBrowse link 4 32,373,096 32,377,388 RGD:13592920
G Sem1 SEM1, 26S proteasome complex subunit JBrowse link 4 32,067,444 32,087,600 RGD:7240710
split hand-foot malformation 1 with sensorineural hearing loss term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dlx5 distal-less homeobox 5 JBrowse link 4 32,387,741 32,392,085 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
split hand-foot malformation 4 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:11568644
RGD:11568638
split hand-foot malformation 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wnt10b Wnt family member 10B JBrowse link 7 140,448,284 140,466,159 RGD:7240710
RGD:8554872
SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Map3k20 mitogen-activated protein kinase kinase kinase 20 JBrowse link 3 58,965,025 59,120,507 RGD:8554872
RGD:7240710
syndactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dll3 delta like canonical Notch ligand 3 JBrowse link 1 85,485,875 85,493,683 RGD:8554872
G Fam92a family with sequence similarity 92 member A JBrowse link 5 25,732,457 25,750,953 RGD:11554173
G Fbn2 fibrillin 2 JBrowse link 18 53,068,495 53,272,254 RGD:1300320
G Fzd4 frizzled class receptor 4 JBrowse link 1 153,589,471 153,598,376 RGD:11554173
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:12738203
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:8554872
RGD:13592920
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:12738225
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:11554173
G Irf6 interferon regulatory factor 6 JBrowse link 13 111,870,121 111,889,328 RGD:1600214
G Jag2 jagged canonical Notch ligand 2 JBrowse link 6 137,711,144 137,733,331 RGD:11554173
G Lmbr1 limb development membrane protein 1 JBrowse link 4 2,116,094 2,274,111 RGD:13592920
G Lrp4 LDL receptor related protein 4 JBrowse link 3 80,362,643 80,416,684 RGD:11554173
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
Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bhlha9 basic helix-loop-helix family, member a9 JBrowse link 10 63,498,267 63,500,353 RGD:7240710
RGD:8554872
Syndactyly, Type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:7240710
RGD:8554872
Syndactyly, Type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ihh Indian hedgehog signaling molecule JBrowse link 9 82,208,223 82,214,440 RGD:12910956
Syndactyly, Type IV term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmbr1 limb development membrane protein 1 JBrowse link 4 2,116,094 2,274,111 RGD:7240710
RGD:8554872
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:12801418
Syndactyly, Type V term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:7240710
RGD:12738470
RGD:11554173
RGD:8554872
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pitx1 paired-like homeodomain 1 JBrowse link 17 8,873,184 8,884,428 RGD:7240710
synpolydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst11 carbohydrate sulfotransferase 11 JBrowse link 7 26,641,856 26,890,503 RGD:8554872
G Fbln1 fibulin 1 JBrowse link 7 126,096,793 126,176,468 RGD:13592920
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:13592920
Synpolydactyly 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst11 carbohydrate sulfotransferase 11 JBrowse link 7 26,641,856 26,890,503 RGD:8554872
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:1599534
RGD:7240710
RGD:11554173
RGD:12743595
RGD:12743592
RGD:11098998
RGD:12738399
RGD:11098055
RGD:11098032
RGD:12738377
RGD:12738375
RGD:11098288
RGD:8554872
Synpolydactyly 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbln1 fibulin 1 JBrowse link 7 126,096,793 126,176,468 RGD:7240710
Synpolydactyly with Foot Anomalies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:8554872
Talipes Cavus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:8554872
G Ercc5 ERCC excision repair 5, endonuclease JBrowse link 9 50,928,847 50,970,962 RGD:8554872
G Gjb1 gap junction protein, beta 1 JBrowse link X 71,272,030 71,279,973 RGD:8554872
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:8554872
G Nefl neurofilament light JBrowse link 15 44,799,378 44,803,251 RGD:8554872
G Smc1a structural maintenance of chromosomes 1A JBrowse link X 21,710,976 21,755,708 RGD:8554872
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
tarsal-carpal coalition syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf9 fibroblast growth factor 9 JBrowse link 15 38,341,657 38,386,945 RGD:8554872
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:8554872
G Nog noggin JBrowse link 10 76,811,759 76,813,386 RGD:7240710
RGD:8554872
RGD:12801450
temtamy preaxial brachydactyly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chsy1 chondroitin sulfate synthase 1 JBrowse link 1 127,010,587 127,071,570 RGD:7240710
RGD:8554872
Terminal Osseous Dysplasia and Pigmentary Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:7240710
RGD:8554872
Tetra-Amelia Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wnt3 Wnt family member 3 JBrowse link 10 91,830,709 91,874,907 RGD:7240710
RGD:8554872
thanatophoric dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:2289863
RGD:8554872
RGD:12910972
RGD:11568030
RGD:11554173
G Hspg2 heparan sulfate proteoglycan 2 JBrowse link 5 155,812,096 155,913,751 RGD:13592920
Thanatophoric Dysplasia, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:7240710
RGD:8554872
Thanatophoric Dysplasia, Type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:8554872
RGD:7240710
thrombocytopenia-absent radius syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankrd34a ankyrin repeat domain 34A JBrowse link 2 198,720,277 198,725,155 RGD:8554872
G Ankrd35 ankyrin repeat domain 35 JBrowse link 2 198,797,136 198,817,144 RGD:8554872
G Hjv hemojuvelin BMP co-receptor JBrowse link 2 198,655,437 198,659,318 RGD:8554872
G Itga10 integrin subunit alpha 10 JBrowse link 2 198,772,937 198,792,253 RGD:8554872
G Lix1l limb and CNS expressed 1 like JBrowse link 2 198,726,110 198,751,987 RGD:8554872
G Nudt17 nudix hydrolase 17 JBrowse link 2 198,831,546 198,836,191 RGD:8554872
G Pex11b peroxisomal biogenesis factor 11 beta JBrowse link 2 198,762,138 198,771,040 RGD:8554872
G Pias3 protein inhibitor of activated STAT, 3 JBrowse link 2 198,821,377 198,831,533 RGD:8554872
G Polr3c RNA polymerase III subunit C JBrowse link 2 198,836,282 198,852,368 RGD:8554872
G Polr3gl RNA polymerase III subunit G like JBrowse link 2 198,698,044 198,719,609 RGD:8554872
G Rbm8a RNA binding motif protein 8A JBrowse link 2 198,755,261 198,758,028 RGD:7240710
RGD:8554872
RGD:11554173
G Txnip thioredoxin interacting protein JBrowse link 2 198,683,168 198,686,971 RGD:8554872
Timothy syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1c calcium voltage-gated channel subunit alpha1 C JBrowse link 4 150,635,808 151,270,790 RGD:1580173
RGD:8554872
RGD:11554173
RGD:7240710
Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccnq cyclin Q JBrowse link 10 66,019,519 66,020,682 RGD:7240710
RGD:8554872
trichorhinophalangeal syndrome type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trps1 transcriptional repressor GATA binding 1 JBrowse link 7 90,085,895 90,320,430 RGD:7240710
RGD:8554872
Triphalangeal Thumb term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmbr1 limb development membrane protein 1 JBrowse link 4 2,116,094 2,274,111 RGD:8554872
Ulnar/Fibular Ray Defect and Brachydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rp1l1 RP1 like 1 JBrowse link 15 47,344,380 47,384,461 RGD:8554872
Upper Extremity Deformities, Congenital term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit JBrowse link 4 77,284,404 77,347,011 RGD:11554173
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
Van Maldergem syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dchs1 dachsous cadherin-related 1 JBrowse link 1 170,594,981 170,629,062 RGD:8554872
RGD:11554173
G Fat4 FAT atypical cadherin 4 JBrowse link 2 125,751,818 125,879,398 RGD:11554173
Van Maldergem Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dchs1 dachsous cadherin-related 1 JBrowse link 1 170,594,981 170,629,062 RGD:7240710
RGD:8554872
Van Maldergem Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fat4 FAT atypical cadherin 4 JBrowse link 2 125,751,818 125,879,398 RGD:7240710
RGD:8554872
Vertical Talus, Congenital term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxd10 homeo box D10 JBrowse link 3 61,614,133 61,617,342 RGD:7240710
RGD:8554872
Vohwinkel Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:7240710
RGD:8554872
RGD:11568635
RGD:7364824
Weaver syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit JBrowse link 4 77,284,404 77,347,011 RGD:7240710
RGD:8554872
G Nsd1 nuclear receptor binding SET domain protein 1 JBrowse link 17 9,840,859 9,955,391 RGD:11554173
RGD:8554872
G Suz12 SUZ12 polycomb repressive complex 2 subunit JBrowse link 10 67,325,101 67,371,588 RGD:8554872
Weill-Marchesani Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 6 108,500,114 108,596,653 RGD:7240710
RGD:8554872
Weyers Acrofacial Dysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Evc EvC ciliary complex subunit 1 JBrowse link 14 78,213,601 78,253,266 RGD:7240710
RGD:8554872
G Evc2 EvC ciliary complex subunit 2 JBrowse link 14 78,128,620 78,212,394 RGD:8554872
RGD:7240710
Winter Shortland Temple Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smo smoothened, frizzled class receptor JBrowse link 4 57,019,941 57,041,779 RGD:8554872
RGD:7240710
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, PIKFYVE complex component JBrowse link 19 40,927,007 41,029,206 RGD:8554872
Zimmerman Laband Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 JBrowse link 16 22,326,537 22,350,143 RGD:8554872
RGD:7240710
RGD:11554173
G Kcnh1 potassium voltage-gated channel subfamily H member 1 JBrowse link 13 110,920,712 111,232,291 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      musculoskeletal system disease 3997
        Musculoskeletal Abnormalities 1196
          Congenital Limb Deformities 344
            ADULT syndrome 1
            Aase Smith Syndrome 0
            Abruzzo Erickson Syndrome 1
            Acromegaloid Facial Appearance Syndrome 0
            Acromesomelic Dysplasia, Demirhan Type 1
            Acromicric Dysplasia + 5
            Acropectoral Syndrome 0
            Acropectorovertebral Dysplasia 0
            Adams-Oliver syndrome + 6
            Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 0
            Arachnodactyly + 7
            Atelosteogenesis Type 3 1
            B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 0
            Bagatelle Cassidy syndrome 0
            Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 0
            Brachyolmia Type 1, Hobaek Type 0
            CHILD Syndrome 1
            CHITAYAT SYNDROME 1
            CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 1
            Calabro Syndrome 0
            Camptobrachydactyly 0
            Cartwright Nelson Fryns Syndrome 0
            Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula 0
            Craniomicromelic Syndrome 0
            Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull 0
            Ectrodactyly-Polydactyly 0
            Ectromelia + 9
            Faciocardiomelic Dysplasia, Lethal 0
            Feingold syndrome + 1
            Fetal Akinesia Syndrome, X-Linked 0
            Freire-Maia Odontotrichomelic Syndrome 0
            Fryns Syndrome 0
            Genee-Wiedemann Syndrome 1
            Grubben de Cock Borghgraef Syndrome 0
            Hand and Foot Deformity with Flat Facies 0
            Hanhart Syndrome 0
            Heart Defects Limb Shortening 0
            Hypoglossia-Hypodactylia 0
            INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES 1
            Ichthyosis Tapered Fingers Midline Groove Up 0
            Kaplan Plauchu Fitch Syndrome 0
            Kaufman Oculocerebrofacial Syndrome 6
            Kuster Syndrome 0
            Laryngeal Atresia, Encephalocele, and Limb Deformities 0
            Le Marec Bracq Picaud Syndrome 0
            Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 0
            Limb-Mammary Syndrome 1
            Lower Extremity Deformities, Congenital + 75
            Lynch Lee Murday syndrome 0
            Malformation of Arms 0
            Megalodactyly 1
            Mental Retardation Spasticity Ectrodactyly 0
            Mesomelia-Synostoses Syndrome 0
            Metaphyseal Anadysplasia + 2
            Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 0
            Microphthalmia, Syndromic 6 1
            Multiple Epiphyseal Dysplasia with Robin Phenotype 0
            Multiple Pterygium Syndrome, X-Linked 0
            Nephrosis Deafness Urinary Tract Digital Malformation 0
            Neu-Laxova syndrome 1 2
            Nievergelt Syndrome 0
            Palant Cleft Palate Syndrome 0
            Penttinen-Aula Syndrome 1
            Peters plus syndrome 1
            Pointer Syndrome 0
            Postaxial Oligodactyly, Tetramelic 0
            Powell Chandra Saal Syndrome 0
            Proteus syndrome + 2
            Radial Ray Deficiency, X-Linked 0
            Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies 1
            Reardon Hall Slaney syndrome 0
            Renal Dysplasia - Limb Defects Syndrome 0
            Robinow syndrome + 7
            Ruzicka Goerz Anton syndrome 0
            SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY 1
            Short Stature-Obesity Syndrome 0
            Splenogonadal Fusion Limb Defects Micrognatia 0
            Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 0
            Split-Hand-Foot Malformation With Long Bone Deficiency 1 0
            Split-Hand/Foot Malformation with Long Bone Deficiency 2 0
            Split-Hand/Foot Malformation with Long Bone Deficiency 3 0
            Steinfeld Syndrome 0
            Stern Lubinsky Durrie Syndrome 0
            Stratton-Parker Syndrome 0
            Tetramelic Monodactyly 0
            Thoracic Dysplasia-Hydrocephalus Syndrome 0
            Thoraco Limb Dysplasia Rivera Type 0
            Thoracomelic Dysplasia 0
            Ulnar Hypoplasia with Mental Retardation 0
            Upper Extremity Deformities, Congenital + 77
            VACTERL association 10
            Viljoen Kallis Voges Syndrome 0
            Weill-Marchesani Syndrome 3 1
            Weyers Acrofacial Dysostosis 2
            Wright Dyck Syndrome 0
            Yunis-Varon syndrome 2
            autosomal recessive Robinow syndrome 2
            brachydactyly + 29
            cocoon syndrome 1
            hypochondroplasia 1
            polydactyly + 116
            rapadilino syndrome 1
            split hand-foot malformation + 13
            syndactyly + 41
            thanatophoric dysplasia + 3
Path 2
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  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        Congenital Abnormalities 3197
          Musculoskeletal Abnormalities 1196
            Congenital Limb Deformities 344
              ADULT syndrome 1
              Aase Smith Syndrome 0
              Abruzzo Erickson Syndrome 1
              Acromegaloid Facial Appearance Syndrome 0
              Acromesomelic Dysplasia, Demirhan Type 1
              Acromicric Dysplasia + 5
              Acropectoral Syndrome 0
              Acropectorovertebral Dysplasia 0
              Adams-Oliver syndrome + 6
              Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 0
              Arachnodactyly + 7
              Atelosteogenesis Type 3 1
              B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 0
              Bagatelle Cassidy syndrome 0
              Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 0
              Brachyolmia Type 1, Hobaek Type 0
              CHILD Syndrome 1
              CHITAYAT SYNDROME 1
              CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 1
              Calabro Syndrome 0
              Camptobrachydactyly 0
              Cartwright Nelson Fryns Syndrome 0
              Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula 0
              Craniomicromelic Syndrome 0
              Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull 0
              Ectrodactyly-Polydactyly 0
              Ectromelia + 9
              Faciocardiomelic Dysplasia, Lethal 0
              Feingold syndrome + 1
              Fetal Akinesia Syndrome, X-Linked 0
              Freire-Maia Odontotrichomelic Syndrome 0
              Fryns Syndrome 0
              Genee-Wiedemann Syndrome 1
              Grubben de Cock Borghgraef Syndrome 0
              Hand and Foot Deformity with Flat Facies 0
              Hanhart Syndrome 0
              Heart Defects Limb Shortening 0
              Hypoglossia-Hypodactylia 0
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES 1
              Ichthyosis Tapered Fingers Midline Groove Up 0
              Kaplan Plauchu Fitch Syndrome 0
              Kaufman Oculocerebrofacial Syndrome 6
              Kuster Syndrome 0
              Laryngeal Atresia, Encephalocele, and Limb Deformities 0
              Le Marec Bracq Picaud Syndrome 0
              Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 0
              Limb-Mammary Syndrome 1
              Lower Extremity Deformities, Congenital + 75
              Lynch Lee Murday syndrome 0
              Malformation of Arms 0
              Megalodactyly 1
              Mental Retardation Spasticity Ectrodactyly 0
              Mesomelia-Synostoses Syndrome 0
              Metaphyseal Anadysplasia + 2
              Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 0
              Microphthalmia, Syndromic 6 1
              Multiple Epiphyseal Dysplasia with Robin Phenotype 0
              Multiple Pterygium Syndrome, X-Linked 0
              Nephrosis Deafness Urinary Tract Digital Malformation 0
              Neu-Laxova syndrome 1 2
              Nievergelt Syndrome 0
              Palant Cleft Palate Syndrome 0
              Penttinen-Aula Syndrome 1
              Peters plus syndrome 1
              Pointer Syndrome 0
              Postaxial Oligodactyly, Tetramelic 0
              Powell Chandra Saal Syndrome 0
              Proteus syndrome + 2
              Radial Ray Deficiency, X-Linked 0
              Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies 1
              Reardon Hall Slaney syndrome 0
              Renal Dysplasia - Limb Defects Syndrome 0
              Robinow syndrome + 7
              Ruzicka Goerz Anton syndrome 0
              SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY 1
              Short Stature-Obesity Syndrome 0
              Splenogonadal Fusion Limb Defects Micrognatia 0
              Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 0
              Split-Hand-Foot Malformation With Long Bone Deficiency 1 0
              Split-Hand/Foot Malformation with Long Bone Deficiency 2 0
              Split-Hand/Foot Malformation with Long Bone Deficiency 3 0
              Steinfeld Syndrome 0
              Stern Lubinsky Durrie Syndrome 0
              Stratton-Parker Syndrome 0
              Tetramelic Monodactyly 0
              Thoracic Dysplasia-Hydrocephalus Syndrome 0
              Thoraco Limb Dysplasia Rivera Type 0
              Thoracomelic Dysplasia 0
              Ulnar Hypoplasia with Mental Retardation 0
              Upper Extremity Deformities, Congenital + 77
              VACTERL association 10
              Viljoen Kallis Voges Syndrome 0
              Weill-Marchesani Syndrome 3 1
              Weyers Acrofacial Dysostosis 2
              Wright Dyck Syndrome 0
              Yunis-Varon syndrome 2
              autosomal recessive Robinow syndrome 2
              brachydactyly + 29
              cocoon syndrome 1
              hypochondroplasia 1
              polydactyly + 116
              rapadilino syndrome 1
              split hand-foot malformation + 13
              syndactyly + 41
              thanatophoric dysplasia + 3
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