ONTOLOGY REPORT - ANNOTATIONS


Term:dysostosis
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Accession:DOID:1934 term browser browse the term
Definition:Defective bone formation involving individual bones, singly or in combination.
Synonyms:exact_synonym: dysostoses
 primary_id: MESH:D004413;   RDO:0000732
For additional species annotation, visit the Alliance of Genome Resources.


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dysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:11554173
G Dll3 delta like canonical Notch ligand 3 JBrowse link 1 85,485,875 85,493,683 RGD:1599775
G Efnb1 ephrin B1 JBrowse link X 68,891,227 68,904,034 RGD:1599802
G Kif3a kinesin family member 3a JBrowse link 10 38,918,705 38,953,958 RGD:13592920
3MC syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link 11 81,330,845 81,344,488 RGD:8554872
G Ahsg alpha-2-HS-glycoprotein JBrowse link 11 81,711,269 81,717,594 RGD:8554872
G Colec11 collectin sub-family member 11 JBrowse link 6 47,857,767 47,889,961 RGD:11554173
G Crygs crystallin, gamma S JBrowse link 11 81,796,891 81,802,172 RGD:8554872
G Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 JBrowse link 11 81,741,342 81,757,806 RGD:8554872
G Eif4a2 eukaryotic translation initiation factor 4A2 JBrowse link 11 81,373,047 81,379,680 RGD:8554872
G Fetub fetuin B JBrowse link 11 81,648,890 81,660,472 RGD:8554872
G Hrg histidine-rich glycoprotein JBrowse link 11 81,621,274 81,639,938 RGD:8554872
G Kng2 kininogen 2 JBrowse link 11 81,509,185 81,516,759 RGD:8554872
G Masp1 mannan-binding lectin serine peptidase 1 JBrowse link 11 80,736,424 80,806,278 RGD:7240710
RGD:8554872
RGD:11554173
G Rfc4 replication factor C subunit 4 JBrowse link 11 81,358,592 81,373,044 RGD:8554872
G Rpl39l ribosomal protein L39-like JBrowse link 10 5,529,580 5,533,695 RGD:8554872
G Rtp1 receptor (chemosensory) transporter protein 1 JBrowse link 11 80,823,989 80,826,505 RGD:8554872
G St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 JBrowse link 11 80,927,601 80,981,424 RGD:8554872
G Tbccd1 TBCC domain containing 1 JBrowse link 11 81,757,963 81,794,367 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
acrodysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase JBrowse link 10 97,962,467 98,017,171 RGD:8554872
G Pde4d phosphodiesterase 4D JBrowse link 2 40,219,999 41,468,551 RGD:8554872
RGD:11554173
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha JBrowse link 10 97,940,705 97,959,199 RGD:8554872
RGD:11554173
Acrodysostosis 1, with or without Hormone Resistance term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase JBrowse link 10 97,962,467 98,017,171 RGD:8554872
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha JBrowse link 10 97,940,705 97,959,199 RGD:7240710
RGD:8554872
Acrodysostosis 2, with or without Hormone Resistance term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Depdc1b DEP domain containing 1B JBrowse link 2 39,980,796 40,069,982 RGD:8554872
G Pde4d phosphodiesterase 4D JBrowse link 2 40,219,999 41,468,551 RGD:7240710
RGD:8554872
acrofacial dysostosis Cincinnati type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polr1a RNA polymerase I subunit A JBrowse link 4 99,822,964 99,903,969 RGD:7240710
RGD:8554872
acromelic frontonasal dysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zswim6 zinc finger, SWIM-type containing 6 JBrowse link 2 38,978,042 39,042,886 RGD:7240710
RGD:8554872
Antley-Bixler 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:11554173
RGD:8554872
RGD:12801485
G Por cytochrome p450 oxidoreductase JBrowse link 12 23,998,411 24,017,063 RGD:7240710
RGD:8554872
RGD:11554173
Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Por cytochrome p450 oxidoreductase JBrowse link 12 23,998,411 24,017,063 RGD:7240710
RGD:8554872
G Tmem120a transmembrane protein 120A JBrowse link 12 23,989,596 23,998,257 RGD:8554872
ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:7240710
RGD:8554872
G Por cytochrome p450 oxidoreductase JBrowse link 12 23,998,411 24,017,063 RGD:11554173
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppp3ca protein phosphatase 3 catalytic subunit alpha JBrowse link 2 241,909,332 242,186,861 RGD:8554872
RGD:7240710
Autosomal Recessive Craniometaphyseal 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:7240710
RGD:8554872
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
Baller-Gerold 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
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med25 mediator complex subunit 25 JBrowse link 1 100,872,240 100,887,864 RGD:8554872
RGD:7240710
Beare-Stevenson cutis gyrata 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:7240710
RGD:8554872
Bohring Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asxl1 ASXL transcriptional regulator 1 JBrowse link 3 148,832,231 148,902,356 RGD:7240710
RGD:8554872
RGD:11554173
Brachycephaly, Trichomegaly, and Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rps23 ribosomal protein S23 JBrowse link 2 19,823,234 19,824,804 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
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
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
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
Cole-Carpenter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P4hb prolyl 4-hydroxylase subunit beta JBrowse link 10 109,736,459 109,748,070 RGD:8554872
RGD:11554173
G Sec24d SEC24 homolog D, COPII coat complex component JBrowse link 2 227,455,704 227,562,801 RGD:11554173
Cole-Carpenter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P4hb prolyl 4-hydroxylase subunit beta JBrowse link 10 109,736,459 109,748,070 RGD:7240710
RGD:8554872
Cole-Carpenter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sec24d SEC24 homolog D, COPII coat complex component JBrowse link 2 227,455,704 227,562,801 RGD:7240710
RGD:8554872
COUSIN SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbx15 T-box 15 JBrowse link 2 201,289,042 201,390,752 RGD:11554173
RGD:7240710
RGD:8554872
Cranioectodermal Dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift122 intraflagellar transport 122 JBrowse link 4 147,756,574 147,826,983 RGD:8554872
RGD:7240710
Cranioectodermal Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spag17 sperm associated antigen 17 JBrowse link 2 202,159,659 202,452,361 RGD:8554872
G Wdr35 WD repeat domain 35 JBrowse link 6 34,094,291 34,152,048 RGD:7240710
RGD:8554872
RGD:11553909
Cranioectodermal Dysplasia 3 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:7240710
RGD:8554872
Cranioectodermal Dysplasia 4 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
RGD:11552606
craniosynostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alx4 ALX homeobox 4 JBrowse link 3 82,548,959 82,585,531 RGD:11554173
G Axin2 axin 2 JBrowse link 10 97,212,483 97,238,824 RGD:13592920
G Bbs9 Bardet-Biedl syndrome 9 JBrowse link 8 23,491,929 24,074,524 RGD:9684995
RGD:11554173
G Bmp2 bone morphogenetic protein 2 JBrowse link 3 126,335,963 126,346,771 RGD:11554173
G Efnb1 ephrin B1 JBrowse link X 68,891,227 68,904,034 RGD:11554173
G Erf Ets2 repressor factor JBrowse link 1 82,112,449 82,120,902 RGD:8554872
RGD:11554173
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit JBrowse link 4 77,284,404 77,347,011 RGD:11554173
G Fbn2 fibrillin 2 JBrowse link 18 53,068,495 53,272,254 RGD:8554872
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:11567263
RGD:8554872
RGD:11554173
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:6480630
RGD:8554872
RGD:12801469
RGD:8547554
RGD:11554173
RGD:12801484
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:11568028
RGD:8554872
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:11531800
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:11554173
G Ift122 intraflagellar transport 122 JBrowse link 4 147,756,574 147,826,983 RGD:11554173
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:8554872
G Msx2 msh homeobox 2 JBrowse link 17 11,683,862 11,689,527 RGD:1600491
RGD:13592920
RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Nell1 neural EGFL like 1 JBrowse link 1 105,348,577 106,218,970 RGD:633405
RGD:11554173
G Nog noggin JBrowse link 10 76,811,759 76,813,386 RGD:8547554
G Npr2 natriuretic peptide receptor 2 JBrowse link 5 59,128,186 59,147,321 RGD:8554872
G Ski SKI proto-oncogene JBrowse link 5 172,556,196 172,623,878 RGD:13592920
G Smad6 SMAD family member 6 JBrowse link 8 68,897,746 68,967,221 RGD:11554173
G Tcf12 transcription factor 12 JBrowse link 8 78,343,634 78,657,738 RGD:11554173
G Twist1 twist family bHLH transcription factor 1 JBrowse link 6 53,401,241 53,403,235 RGD:7240710
RGD:8554872
RGD:11554173
G Wdr35 WD repeat domain 35 JBrowse link 6 34,094,291 34,152,048 RGD:11554173
G Zfp462 zinc finger protein 462 JBrowse link 5 71,679,841 71,824,077 RGD:8554872
G Zic1 Zic family member 1 JBrowse link 8 98,733,715 98,738,960 RGD:11554173
Craniosynostosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Msx2 msh homeobox 2 JBrowse link 17 11,683,862 11,689,527 RGD:7240710
RGD:8554872
Craniosynostosis 3 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
G Tcf12 transcription factor 12 JBrowse link 8 78,343,634 78,657,738 RGD:7240710
RGD:8554872
Craniosynostosis 4 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:7240710
RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
Craniosynostosis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alx4 ALX homeobox 4 JBrowse link 3 82,548,959 82,585,531 RGD:8554872
RGD:7240710
Craniosynostosis 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zic1 Zic family member 1 JBrowse link 8 98,733,715 98,738,960 RGD:7240710
RGD:8554872
Craniosynostosis 7 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:8554872
G Smad6 SMAD family member 6 JBrowse link 8 68,897,746 68,967,221 RGD:7240710
Craniosynostosis and Dental Anomalies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il11ra1 interleukin 11 receptor subunit alpha 1 JBrowse link 5 58,149,150 58,159,072 RGD:7240710
RGD:8554872
Craniosynostosis Syndrome, Autosomal Recessive 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
Crouzon 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:7240710
RGD:8554872
RGD:12801472
RGD:12801470
RGD:12801466
RGD:11554173
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:8554872
G Tcof1 treacle ribosome biogenesis factor 1 JBrowse link 18 56,081,863 56,115,719 RGD:8554872
Crouzon syndrome-acanthosis nigricans 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
RGD:11568032
RGD:11554173
Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tsr2 TSR2, ribosome maturation factor JBrowse link X 20,141,406 20,146,082 RGD:7240710
RGD:8554872
Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100361854 ribosomal protein S26-like JBrowse link X 115,495,660 115,496,062 RGD:8554872
G Rps28 ribosomal protein S28 JBrowse link 7 18,682,071 18,683,440 RGD:7240710
RGD:8554872
G Tsr2 TSR2, ribosome maturation factor JBrowse link X 20,141,406 20,146,082 RGD:8554872
Diaphanospondylodysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmper BMP-binding endothelial regulator JBrowse link 8 24,369,916 24,615,484 RGD:7240710
RGD:8554872
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
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
Facial Ectodermal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twist2 twist family bHLH transcription factor 2 JBrowse link 9 98,924,134 98,968,510 RGD:7240710
RGD:8554872
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
focal dermal hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Porcn porcupine O-acyltransferase JBrowse link X 15,035,569 15,048,440 RGD:7240710
RGD:8554872
RGD:11554173
Focal Facial Dermal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp26c1 cytochrome P450, family 26, subfamily C, polypeptide 1 JBrowse link 1 256,369,410 256,380,649 RGD:11554173
Focal Facial Dermal Dysplasia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp26c1 cytochrome P450, family 26, subfamily C, polypeptide 1 JBrowse link 1 256,369,410 256,380,649 RGD:7240710
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
Freeman-Sheldon Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:7240710
RGD:8554872
Frontonasal Dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alx3 ALX homeobox 3 JBrowse link 2 210,376,510 210,386,928 RGD:7240710
RGD:8554872
Frontonasal Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alx4 ALX homeobox 4 JBrowse link 3 82,548,959 82,585,531 RGD:7240710
RGD:8554872
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
Goldenhar syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sall1 spalt-like transcription factor 1 JBrowse link 19 23,387,737 23,405,025 RGD:8554872
G Zic3 Zic family member 3 JBrowse link X 140,875,191 140,888,344 RGD:13592920
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
Ischiopatellar Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbx4 T-box 4 JBrowse link 10 73,331,864 73,362,784 RGD:7240710
RGD:8554872
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
Jarcho-Levin Syndrome 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
RGD:7240710
G Mesp2 mesoderm posterior bHLH transcription factor 2 JBrowse link 1 141,550,633 141,553,239 RGD:8554872
Joubert syndrome with orofaciodigital defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cplane1 ciliogenesis and planar polarity effector 1 JBrowse link 2
2
57,274,175
57,444,373
57,350,003
57,472,465
RGD:8554872
RGD:7240710
Klippel-Feil syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf3 growth differentiation factor 3 JBrowse link 4 155,417,667 155,422,014 RGD:13592920
G Gdf6 growth differentiation factor 6 JBrowse link 5 23,056,345 23,072,666 RGD:11554173
RGD:8554872
G Meox1 mesenchyme homeobox 1 JBrowse link 10 89,797,011 89,817,009 RGD:11554173
G Myo18b myosin XVIIIb JBrowse link 12 49,761,100 49,979,745 RGD:8554872
Klippel-Feil Syndrome 1, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf6 growth differentiation factor 6 JBrowse link 5 23,056,345 23,072,666 RGD:7240710
RGD:8554872
Klippel-Feil Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Meox1 mesenchyme homeobox 1 JBrowse link 10 89,797,011 89,817,009 RGD:7240710
RGD:8554872
G Ripply2 ripply transcriptional repressor 2 JBrowse link 8 94,676,579 94,691,125 RGD:8554872
Klippel-Feil Syndrome 3, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf3 growth differentiation factor 3 JBrowse link 4 155,417,667 155,422,014 RGD:7240710
RGD:8554872
KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo18b myosin XVIIIb JBrowse link 12 49,761,100 49,979,745 RGD:8554872
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
Loeys-Dietz syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:8554872
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:8554872
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
G Fbn2 fibrillin 2 JBrowse link 18 53,068,495 53,272,254 RGD:8554872
G Myh11 myosin heavy chain 11 JBrowse link 10 764,421 859,184 RGD:8554872
G Mylk myosin light chain kinase JBrowse link 11 69,013,060 69,260,039 RGD:8554872
G Smad3 SMAD family member 3 JBrowse link 8 68,569,530 68,678,349 RGD:8554872
RGD:11554173
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:8554872
RGD:11554173
G Tgfb3 transforming growth factor, beta 3 JBrowse link 6 109,913,757 109,936,217 RGD:11554173
RGD:8554872
G Tgfbr1 transforming growth factor, beta receptor 1 JBrowse link 5 63,056,071 63,119,635 RGD:8554872
RGD:11554173
G Tgfbr2 transforming growth factor, beta receptor 2 JBrowse link 8 124,310,288 124,399,345 RGD:8554872
RGD:11554173
Loeys-Dietz syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbr1 transforming growth factor, beta receptor 1 JBrowse link 5 63,056,071 63,119,635 RGD:8554872
RGD:7240710
G Tgfbr2 transforming growth factor, beta receptor 2 JBrowse link 8 124,310,288 124,399,345 RGD:8554872
Loeys-Dietz syndrome 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:8554872
G Tgfbr2 transforming growth factor, beta receptor 2 JBrowse link 8 124,310,288 124,399,345 RGD:8554872
RGD:7240710
G Tmpo thymopoietin JBrowse link 7 31,847,412 31,872,416 RGD:8554872
Loeys-Dietz syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smad3 SMAD family member 3 JBrowse link 8 68,569,530 68,678,349 RGD:7240710
RGD:8554872
G Smad6 SMAD family member 6 JBrowse link 8 68,897,746 68,967,221 RGD:8554872
Loeys-Dietz syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 JBrowse link 13 103,268,045 103,292,848 RGD:8554872
G Dusp10 dual specificity phosphatase 10 JBrowse link 13 104,284,660 104,321,455 RGD:8554872
G Eprs glutamyl-prolyl-tRNA synthetase JBrowse link 13 103,300,911 103,371,651 RGD:8554872
G Esrrg estrogen-related receptor gamma JBrowse link 13 106,063,799 106,683,353 RGD:8554872
G Gpatch2 G patch domain containing 2 JBrowse link 13 105,684,300 105,824,405 RGD:8554872
G Hlx H2.0-like homeobox JBrowse link 13 102,637,967 102,643,376 RGD:8554872
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial JBrowse link 13 103,229,868 103,265,019 RGD:8554872
G Kctd3 potassium channel tetramerization domain containing 3 JBrowse link 13 107,433,588 107,471,843 RGD:8554872
G Lyplal1 lysophospholipase-like 1 JBrowse link 13 104,049,263 104,080,680 RGD:8554872
G Marc1 mitochondrial amidoxime reducing component 1 JBrowse link 13 102,693,679 102,724,120 RGD:8554872
G Marc2 mitochondrial amidoxime reducing component 2 JBrowse link 13 102,724,266 102,755,511 RGD:8554872
G Mark1 microtubule affinity regulating kinase 1 JBrowse link 13 102,808,254 102,942,863 RGD:8554872
G Mir194-1 microRNA 194-1 JBrowse link 13 103,250,576 103,250,658 RGD:8554872
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link 13 103,157,806 103,229,010 RGD:8554872
G RGD1310587 similar to hypothetical protein FLJ14146 JBrowse link 13 102,780,885 102,790,621 RGD:8554872
G Rrp15 ribosomal RNA processing 15 homolog JBrowse link 13 105,155,824 105,178,907 RGD:8554872
G Slc30a10 solute carrier family 30, member 10 JBrowse link 13 103,396,295 103,406,759 RGD:8554872
G Spata17 spermatogenesis associated 17 JBrowse link 13 105,489,121 105,684,293 RGD:8554872
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:7240710
RGD:8554872
G Tgfb3 transforming growth factor, beta 3 JBrowse link 6 109,913,757 109,936,217 RGD:8554872
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8554872
Loeys-Dietz syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfb3 transforming growth factor, beta 3 JBrowse link 6 109,913,757 109,936,217 RGD:7240710
RGD:8554872
Loeys-Dietz Syndrome, Type 1b term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbr2 transforming growth factor, beta receptor 2 JBrowse link 8 124,310,288 124,399,345 RGD:8554872
G Tmpo thymopoietin JBrowse link 7 31,847,412 31,872,416 RGD:8554872
Mandibulofacial Dysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eftud2 elongation factor Tu GTP binding domain containing 2 JBrowse link 10 90,932,071 90,983,971 RGD:10045556
G Polr1c RNA polymerase I and III subunit C JBrowse link 9 17,120,759 17,124,871 RGD:11554173
G Polr1d RNA polymerase I and III subunit D JBrowse link 12 9,693,828 9,727,416 RGD:11554173
G Tcof1 treacle ribosome biogenesis factor 1 JBrowse link 18 56,081,863 56,115,719 RGD:11554173
mandibulofacial dysostosis with alopecia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ednra endothelin receptor type A JBrowse link 19 33,928,356 33,991,703 RGD:8554872
RGD:7240710
Mandibulofacial Dysostosis with Mental Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca4 ATP binding cassette subfamily A member 4 JBrowse link 2 225,645,539 225,783,288 RGD:8554872
mandibulofacial dysostosis, Guion-Almeida type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eftud2 elongation factor Tu GTP binding domain containing 2 JBrowse link 10 90,932,071 90,983,971 RGD:7240710
RGD:8554872
RGD:10045557
Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polr1c RNA polymerase I and III subunit C JBrowse link 9 17,120,759 17,124,871 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
Muenke 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
multiple synostoses 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:13592920
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:13592920
G Nog noggin JBrowse link 10 76,811,759 76,813,386 RGD:13592920
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
Multiple Synostoses Syndrome 2 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
Multiple Synostoses Syndrome 3 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:7240710
RGD:8554872
Multiple Synostoses Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf6 growth differentiation factor 6 JBrowse link 5 23,056,345 23,072,666 RGD:8554872
RGD:7240710
Nager acrofacial dysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sf3b4 splicing factor 3b, subunit 4 JBrowse link 2 198,312,428 198,317,180 RGD:7240710
RGD:8554872
Nonsyndromic Trigonocephaly 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
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:11554186
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
Oculomaxillofacial Dysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like JBrowse link 20 14,287,470 14,393,879 RGD:7240710
RGD:8554872
Opitz Trigonocephaly Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd96 CD96 molecule JBrowse link 11 57,108,757 57,183,855 RGD:7240710
RGD:8554872
RGD:11554173
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
orofaciodigital syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C2cd3 C2 calcium-dependent domain containing 3 JBrowse link 1 165,382,279 165,480,088 RGD:11554173
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:8554872
G Tmem107 transmembrane protein 107 JBrowse link 10 55,653,694 55,656,270 RGD:8554872
G Tmem17 transmembrane protein 17 JBrowse link 14 107,268,235 107,308,546 RGD:8554872
orofaciodigital syndrome I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:7240710
RGD:8554872
RGD:11535968
RGD:11535966
RGD:11535960
RGD:11535958
RGD:11535957
orofaciodigital syndrome III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 JBrowse link 2 211,183,410 211,207,458 RGD:8554872
G Ift140 intraflagellar transport 140 JBrowse link 10 14,373,668 14,461,509 RGD:8554872
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:8554872
orofaciodigital syndrome IV term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tctn3 tectonic family member 3 JBrowse link 1 259,681,435 259,691,881 RGD:7240710
RGD:8554872
orofaciodigital syndrome IX term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sclt1 sodium channel and clathrin linker 1 JBrowse link 2 128,523,376 128,675,668 RGD:8554872
orofaciodigital syndrome V term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddx59 DEAD-box helicase 59 JBrowse link 13 53,299,872 53,324,824 RGD:7240710
RGD:8554872
Orofaciodigital Syndrome XIV term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C2cd3 C2 calcium-dependent domain containing 3 JBrowse link 1 165,382,279 165,480,088 RGD:7240710
RGD:8554872
Orofaciodigital Syndrome XV term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RGD1304728 similar to 4933427D14Rik protein JBrowse link 10 58,726,721 58,776,718 RGD:8554872
RGD:7240710
orofaciodigital syndrome XVI 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
orofaciodigital syndrome XVII 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
Orofaciodigital Syndrome XVIII term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift57 intraflagellar transport 57 JBrowse link 11 53,664,638 53,731,779 RGD:8554872
RGD:7240710
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
Patterson Stevenson 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:8554872
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:12801418
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
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
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
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
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
radioulnar synostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxa11 homeobox A11 JBrowse link 4 82,296,888 82,301,419 RGD:11353968
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxa11 homeobox A11 JBrowse link 4 82,296,888 82,301,419 RGD:8554872
RGD:11554173
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxa11 homeobox A11 JBrowse link 4 82,296,888 82,301,419 RGD:7240710
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mecom MDS1 and EVI1 complex locus JBrowse link 2 117,396,084 117,993,604 RGD:7240710
RGD:8554872
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
Rubinstein-Taybi syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adcy9 adenylate cyclase 9 JBrowse link 10 11,392,698 11,515,406 RGD:8554872
G Crebbp CREB binding protein JBrowse link 10 11,590,994 11,721,039 RGD:734820
RGD:8554872
RGD:7240710
G Ep300 E1A binding protein p300 JBrowse link 7 122,818,194 122,889,055 RGD:1580966
RGD:8554872
RGD:7296921
RGD:7240710
G Glis2 GLIS family zinc finger 2 JBrowse link 10 11,154,459 11,177,063 RGD:8554872
G Srl sarcalumenin JBrowse link 10 11,240,135 11,284,325 RGD:8554872
G Tfap4 transcription factor AP-4 JBrowse link 10 11,204,616 11,222,975 RGD:8554872
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
Scaphocephaly, Maxillary Retrusion, and Mental Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:7240710
RGD:8554872
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
Sensenbrenner syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift122 intraflagellar transport 122 JBrowse link 4 147,756,574 147,826,983 RGD:8554872
RGD:11554173
G Ift43 intraflagellar transport 43 JBrowse link 6 109,939,323 110,016,646 RGD:8554872
RGD:11554173
G Matn3 matrilin 3 JBrowse link 6 34,071,428 34,091,048 RGD:8554872
G Mbd4 methyl-CpG binding domain 4 DNA glycosylase JBrowse link 4 147,744,673 147,756,462 RGD:8554872
G Tgfb3 transforming growth factor, beta 3 JBrowse link 6 109,913,757 109,936,217 RGD:8554872
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:8554872
RGD:11554173
G Wdr35 WD repeat domain 35 JBrowse link 6 34,094,291 34,152,048 RGD:8554872
RGD:11554173
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
spondylocarpotarsal synostosis syndrome 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:12791028
RGD:11554173
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:8554872
spondylocostal dysostosis 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
RGD:13592920
G Hes7 hes family bHLH transcription factor 7 JBrowse link 10 55,704,485 55,710,523 RGD:13592920
G Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase JBrowse link 12 16,117,767 16,126,211 RGD:13592920
RGD:8554872
G Mesp2 mesoderm posterior bHLH transcription factor 2 JBrowse link 1 141,550,633 141,553,239 RGD:8554872
RGD:13592920
G Ripply2 ripply transcriptional repressor 2 JBrowse link 8 94,676,579 94,691,125 RGD:13592920
G Tbx6 T-box 6 JBrowse link 1 198,214,797 198,218,706 RGD:13592920
Spondylocostal Dysostosis 2, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mesp2 mesoderm posterior bHLH transcription factor 2 JBrowse link 1 141,550,633 141,553,239 RGD:7240710
Spondylocostal Dysostosis 3, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase JBrowse link 12 16,117,767 16,126,211 RGD:7240710
RGD:8554872
Spondylocostal Dysostosis 4, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hes7 hes family bHLH transcription factor 7 JBrowse link 10 55,704,485 55,710,523 RGD:7240710
RGD:8554872
Spondylocostal Dysostosis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldoa aldolase, fructose-bisphosphate A JBrowse link 1 198,228,387 198,233,988 RGD:8554872
G Asphd1 aspartate beta-hydroxylase domain containing 1 JBrowse link 1 198,379,060 198,382,982 RGD:8554872
G Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase JBrowse link 1 198,409,186 198,413,497 RGD:8554872
G Coro1a coronin 1A JBrowse link 1 198,123,883 198,128,890 RGD:8554872
G Doc2a double C2 domain alpha JBrowse link 1 198,282,828 198,288,611 RGD:8554872
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 JBrowse link 1 198,199,032 198,209,178 RGD:8554872
G Hes7 hes family bHLH transcription factor 7 JBrowse link 10 55,704,485 55,710,523 RGD:8554872
G Hirip3 HIRA interacting protein 3 JBrowse link 1 198,298,138 198,301,164 RGD:8554872
G Ino80e INO80 complex subunit E JBrowse link 1 198,287,489 198,298,076 RGD:8554872
G Kctd13 potassium channel tetramerization domain containing 13 JBrowse link 1 198,360,627 198,378,935 RGD:8554872
G Kif22 kinesin family member 22 JBrowse link 1 198,461,406 198,476,430 RGD:8554872
G LOC308990 hypothetical protein LOC308990 JBrowse link 1 198,528,569 198,531,585 RGD:8554872
G Mapk3 mitogen activated protein kinase 3 JBrowse link 1 198,192,773 198,198,975 RGD:8554872
G Maz MYC associated zinc finger protein JBrowse link 1 198,456,699 198,460,126 RGD:8554872
G Mesp2 mesoderm posterior bHLH transcription factor 2 JBrowse link 1 141,550,633 141,553,239 RGD:8554872
G Mvp major vault protein JBrowse link 1 198,420,813 198,448,612 RGD:8554872
G Pagr1 Paxip1-associated glutamate-rich protein 1 JBrowse link 1 198,448,790 198,451,078 RGD:8554872
G Ppp4c protein phosphatase 4, catalytic subunit JBrowse link 1 198,219,012 198,225,775 RGD:8554872
G Prrt2 proline-rich transmembrane protein 2 JBrowse link 1 198,451,042 198,454,998 RGD:8554872
G Qprt quinolinate phosphoribosyltransferase JBrowse link 1 198,544,262 198,559,556 RGD:8554872
G RGD1563217 similar to RIKEN cDNA 4930451I11 JBrowse link 1 198,260,711 198,268,056 RGD:8554872
G Sez6l2 seizure related 6 homolog like 2 JBrowse link 1 198,383,201 198,403,544 RGD:8554872
G Spn sialophorin JBrowse link 1 198,572,999 198,585,664 RGD:8554872
G Taok2 TAO kinase 2 JBrowse link 1 198,301,789 198,354,601 RGD:8554872
G Tbx6 T-box 6 JBrowse link 1 198,214,797 198,218,706 RGD:7240710
RGD:8554872
G Tlcd3b TLC domain ceramide synthase 3B JBrowse link 1 198,252,208 198,265,840 RGD:8554872
G Tmem219 transmembrane protein 219 JBrowse link 1 198,322,276 198,360,552 RGD:8554872
G Ypel3 yippee-like 3 JBrowse link 1 198,210,525 198,213,821 RGD:8554872
G Zg16 zymogen granule protein 16 JBrowse link 1 198,483,800 198,486,157 RGD:8554872
Spondylocostal Dysostosis 6, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ripply2 ripply transcriptional repressor 2 JBrowse link 8 94,676,579 94,691,125 RGD:7240710
RGD:8554872
Spondylocostal Dysostosis, Autosomal Recessive 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
RGD:11554173
G Hes7 hes family bHLH transcription factor 7 JBrowse link 10 55,704,485 55,710,523 RGD:8554872
RGD:11554173
G Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase JBrowse link 12 16,117,767 16,126,211 RGD:8554872
RGD:11554173
G Mesp2 mesoderm posterior bHLH transcription factor 2 JBrowse link 1 141,550,633 141,553,239 RGD:8554872
RGD:11554173
G Ripply2 ripply transcriptional repressor 2 JBrowse link 8 94,676,579 94,691,125 RGD:11554173
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
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
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
Treacher Collins syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polr1c RNA polymerase I and III subunit C JBrowse link 9 17,120,759 17,124,871 RGD:13592920
G Polr1d RNA polymerase I and III subunit D JBrowse link 12 9,693,828 9,727,416 RGD:7240710
RGD:8554872
G Tcof1 treacle ribosome biogenesis factor 1 JBrowse link 18 56,081,863 56,115,719 RGD:1599379
RGD:8554872
RGD:7240710
Trigonocephaly 1 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
Trigonocephaly 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:7240710
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
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    Developmental Diseases 7769
      bone development disease 895
        dysostosis 233
          Achard syndrome 0
          Agenesis of Cervical Vertebrae 0
          COUSIN SYNDROME 1
          Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 0
          Cenani-Lenz syndactyly syndrome 1
          Crouzon syndrome + 23
          Diaphanospondylodysostosis 1
          Fronto-Facio-Nasal Dysplasia 0
          Frontonasal Dysplasia 1 1
          Isolated Thoracic Dysostosis 0
          Klippel-Feil syndrome + 5
          Mandibulofacial Dysostosis Syndrome, Bauru Type 0
          Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 0
          Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 0
          Rubinstein-Taybi syndrome + 6
          Spondylospinal Thoracic Dysostosis 0
          Thoracopelvic Dysostosis 0
          acrodysostosis + 4
          acrofacial dysostosis + 2
          acrofrontofacionasal dysostosis 0
          acromelic frontonasal dysostosis 1
          brachydactyly + 29
          focal dermal hypoplasia + 3
          orofaciodigital syndrome + 13
          spondylocostal dysostosis + 32
          synostosis + 148
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      musculoskeletal system disease 3997
        connective tissue disease 2585
          bone disease 2125
            bone development disease 895
              dysostosis 233
                Achard syndrome 0
                Agenesis of Cervical Vertebrae 0
                COUSIN SYNDROME 1
                Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 0
                Cenani-Lenz syndactyly syndrome 1
                Crouzon syndrome + 23
                Diaphanospondylodysostosis 1
                Fronto-Facio-Nasal Dysplasia 0
                Frontonasal Dysplasia 1 1
                Isolated Thoracic Dysostosis 0
                Klippel-Feil syndrome + 5
                Mandibulofacial Dysostosis Syndrome, Bauru Type 0
                Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 0
                Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 0
                Rubinstein-Taybi syndrome + 6
                Spondylospinal Thoracic Dysostosis 0
                Thoracopelvic Dysostosis 0
                acrodysostosis + 4
                acrofacial dysostosis + 2
                acrofrontofacionasal dysostosis 0
                acromelic frontonasal dysostosis 1
                brachydactyly + 29
                focal dermal hypoplasia + 3
                orofaciodigital syndrome + 13
                spondylocostal dysostosis + 32
                synostosis + 148
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.