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ONTOLOGY REPORT - ANNOTATIONS


Term:craniosynostosis
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Accession:DOID:2340 term browser browse the term
Definition:Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS.
Synonyms:exact_synonym: Acrocephaly;   Brachycephaly;   CRANIOSYNOSTOSIS 1;   CRS;   CRS1;   Craniostenoses;   Craniostenosis;   Craniosynostose;   Craniosynostosis Plagiocephaly;   Craniosynostosis, nonsyndromic unicoronal;   Lambdoid Synostoses;   Lambdoid Synostosis;   Lambdoidal Craniosynostoses;   Lambdoidal Craniosynostosis;   Metopic Synostoses;   Metopic Synostosis;   Oxycephaly;   Premature closure of cranial sutures;   Sagittal Synostoses;   Sagittal Synostosis;   Scaphocephaly;   Synostotic Anterior Plagiocephaly;   Synostotic Plagiocephaly;   Synostotic Posterior Plagiocephaly;   Trigonocephaly;   Type 1 Craniosynostoses;   Type 1 Craniosynostosis;   Unilateral Coronal Synostoses;   Unilateral Coronal Synostosis;   craniosynostoses
 narrow_synonym: CRANIOSYNOSTOSIS, NONSPECIFIC;   FGFR2 RELATED CRANIOSYNOSTOSIS
 primary_id: MESH:D003398;   RDO:0000816
 alt_id: OMIA:001551;   OMIM:123100
 xref: GARD:6209;   ICD10CM:Q75.0;   NCI:C84655;   OMIM:PS123100;   ORDO:1531
For additional species annotation, visit the Alliance of Genome Resources.


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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 Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 JBrowse link 4 116,261,796 116,278,615 RGD:8554872
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 Igf1r insulin-like growth factor 1 receptor JBrowse link 1 128,924,921 129,213,816 RGD:8554872
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 Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like JBrowse link 20 14,287,470 14,393,879 RGD:8554872
G Tcf12 transcription factor 12 JBrowse link 8 78,343,634 78,657,738 RGD:11554173
RGD:8554872
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
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
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
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
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
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
G Klhl7 kelch-like family member 7 JBrowse link 4 7,532,881 7,582,032 RGD:8554872
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
Carpenter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bag2 BAG cochaperone 2 JBrowse link 9 38,456,487 38,467,120 RGD:8554872
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
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
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 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
G Twist1 twist family bHLH transcription factor 1 JBrowse link 6 53,401,241 53,403,235 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
RGD:8554872
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
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 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
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
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
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 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 Mtarc1 mitochondrial amidoxime reducing component 1 JBrowse link 13 102,693,679 102,724,120 RGD:8554872
G Mtarc2 mitochondrial amidoxime reducing component 2 JBrowse link 13 102,724,266 102,755,511 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
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
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
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
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
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
postaxial acrofacial dysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dhodh dihydroorotate dehydrogenase (quinone) JBrowse link 19 42,066,103 42,087,906 RGD:7240710
RGD:8554872
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
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
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
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-Goldberg Craniosynostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 JBrowse link 5 173,340,060 173,354,756 RGD:8554872
G Actrt2 actin-related protein T2 JBrowse link 5 172,077,290 172,078,690 RGD:8554872
G Agrn agrin JBrowse link 5 173,589,910 173,622,813 RGD:8554872
G Ankrd65 ankyrin repeat domain 65 JBrowse link 5 173,237,642 173,239,899 RGD:8554872
G Atad3a ATPase family, AAA domain containing 3A JBrowse link 5 173,189,590 173,209,809 RGD:8554872
G Aurkaip1 aurora kinase A interacting protein 1 JBrowse link 5 173,274,433 173,276,170 RGD:8554872
G B3galt6 Beta-1,3-galactosyltransferase 6 JBrowse link 5 173,423,475 173,425,611 RGD:8554872
G C1qtnf12 C1q and TNF related 12 JBrowse link 5 173,390,901 173,395,276 RGD:8554872
G Ccnl2 cyclin L2 JBrowse link 5 173,256,301 173,268,279 RGD:8554872
G Cdk11b cyclin-dependent kinase 11B JBrowse link 5 173,051,900 173,078,049 RGD:8554872
G Cfap74 cilia and flagella associated protein 74 JBrowse link 5 172,817,221 172,884,996 RGD:8554872
G Cptp ceramide-1-phosphate transfer protein JBrowse link 5 173,314,219 173,318,384 RGD:8554872
G Dvl1 dishevelled segment polarity protein 1 JBrowse link 5 173,295,948 173,308,014 RGD:8554872
G Faap20 FA core complex associated protein 20 JBrowse link 5 172,648,171 172,655,576 RGD:8554872
G Fndc10 fibronectin type III domain containing 10 JBrowse link 5 173,139,345 173,141,564 RGD:8554872
G Gabrd gamma-aminobutyric acid type A receptor subunit delta JBrowse link 5 172,797,478 172,809,374 RGD:8554872
G Gnb1 G protein subunit beta 1 JBrowse link 5 172,914,025 172,981,403 RGD:8554872
G Hes5 hes family bHLH transcription factor 5 JBrowse link 5 172,364,421 172,365,188 RGD:8554872
G Ints11 integrator complex subunit 11 JBrowse link 5 173,318,435 173,336,930 RGD:8554872
G Kifbp kinesin family binding protein JBrowse link 20 32,191,731 32,211,295 RGD:8554872
G Mib2 mindbomb E3 ubiquitin protein ligase 2 JBrowse link 5 173,082,943 173,099,353 RGD:8554872
G Mir200a microRNA 200a JBrowse link 5 173,489,366 173,489,454 RGD:8554872
G Mir200b microRNA 200b JBrowse link 5 173,490,144 173,490,238 RGD:8554872
G Mir429 microRNA 429 JBrowse link 5 173,488,331 173,488,415 RGD:8554872
G Mmel1 membrane metallo-endopeptidase-like 1 JBrowse link 5 172,273,450 172,303,905 RGD:8554872
G Mmp23 matrix metallopeptidase 23 JBrowse link 5 173,078,811 173,082,834 RGD:8554872
G Morn1 MORN repeat containing 1 JBrowse link 5 172,489,160 172,547,102 RGD:8554872
G Mrpl20 mitochondrial ribosomal protein L20 JBrowse link 5 173,248,245 173,252,775 RGD:8554872
G Mxra8 matrix remodeling associated 8 JBrowse link 5 173,288,200 173,292,926 RGD:8554872
G Nadk NAD kinase JBrowse link 5 172,984,930 173,015,505 RGD:8554872
G Pank4 pantothenate kinase 4 JBrowse link 5 172,367,593 172,384,077 RGD:8554872
G Pex10 peroxisomal biogenesis factor 10 JBrowse link 5 172,469,978 172,475,144 RGD:8554872
G Plch2 phospholipase C, eta 2 JBrowse link 5 172,386,400 172,455,965 RGD:8554872
G Prkcz protein kinase C, zeta JBrowse link 5 172,658,071 172,769,492 RGD:8554872
G Prxl2b peroxiredoxin like 2B JBrowse link 5 172,304,799 172,307,402 RGD:8554872
G Pusl1 pseudouridine synthase like 1 JBrowse link 5 173,326,755 173,339,934 RGD:8554872
G Rer1 retention in endoplasmic reticulum sorting receptor 1 JBrowse link 5 172,476,746 172,488,822 RGD:8554872
G RGD1311517 similar to RIKEN cDNA 9430015G10 JBrowse link 5 173,542,058 173,559,761 RGD:8554872
G Rnf223 ring finger protein 223 JBrowse link 5 173,561,016 173,566,844 RGD:8554872
G Sdf4 stromal cell derived factor 4 JBrowse link 5 173,425,922 173,444,478 RGD:8554872
G Ski SKI proto-oncogene JBrowse link 5 172,556,196 172,623,878 RGD:7240710
RGD:8554872
RGD:11554173
G Slc35e2b solute carrier family 35, member E2B JBrowse link 5 173,024,335 173,050,228 RGD:8554872
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase JBrowse link 5 173,152,964 173,182,720 RGD:8554872
G Tas1r3 taste 1 receptor member 3 JBrowse link 5 173,307,325 173,312,950 RGD:8554872
G Tmem240 transmembrane protein 240 JBrowse link 5 173,182,815 173,189,683 RGD:8554872
G Tmem52 transmembrane protein 52 JBrowse link 5 172,887,587 172,889,349 RGD:8554872
G Tmem88b transmembrane protein 88B JBrowse link 5 173,230,364 173,233,188 RGD:8554872
G Tnfrsf14 TNF receptor superfamily member 14 JBrowse link 5 172,328,259 172,337,221 RGD:8554872
G Tnfrsf18 TNF receptor superfamily member 18 JBrowse link 5 173,459,371 173,463,980 RGD:8554872
G Tnfrsf4 TNF receptor superfamily member 4 JBrowse link 5 173,447,784 173,450,474 RGD:8554872
G Ttc34 tetratricopeptide repeat domain 34 JBrowse link 5 172,253,257 172,271,056 RGD:8554872
G Ttll10 tubulin tyrosine ligase like 10 JBrowse link 5 173,471,020 173,517,783 RGD:8554872
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 JBrowse link 5 173,372,659 173,387,084 RGD:8554872
G Vwa1 von Willebrand factor A domain containing 1 JBrowse link 5 173,216,737 173,221,923 RGD:8554872
Treacher Collins syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd74 CD74 molecule JBrowse link 18 56,071,420 56,080,851 RGD:8554872
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      bone development disease 1008
        dysostosis 309
          synostosis 205
            craniosynostosis 169
              3MC syndrome 1 15
              Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development 1
              Aurocephalosyndactyly 0
              Baller-Gerold syndrome 1
              Baraitser Rodeck Garner syndrome 0
              Beare-Stevenson cutis gyrata syndrome 1
              Bohring Syndrome 2
              Brachycephaly, Trichomegaly, and Developmental Delay 1
              Calabro Syndrome 0
              Cole-Carpenter syndrome + 2
              Craniosynostosis 2 1
              Craniosynostosis 3 3
              Craniosynostosis 4 2
              Craniosynostosis 5 1
              Craniosynostosis 6 1
              Craniosynostosis 7 2
              Craniosynostosis Mental Retardation Clefting Syndrome 0
              Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 0
              Craniosynostosis Syndrome, Autosomal Recessive 1
              Craniosynostosis and Dental Anomalies 1
              Craniosynostosis with Anomalies of the Cranial Base and Digits 0
              Craniosynostosis with Ectopia Lentis 0
              Craniosynostosis with Fibular Aplasia 0
              Craniosynostosis with Ocular Abnormalities and Hallucal Defects 0
              Craniosynostosis, Adelaide Type 0
              Craniosynostosis, Anal Anomalies, and Porokeratosis 0
              Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 0
              Craniosynostosis, Philadelphia Type 0
              Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 0
              Craniotelencephalic Dysplasia 0
              Crouzon syndrome + 24
              Fine-Lubinsky Syndrome 0
              Frontonasal Dysplasia 2 1
              Genoa Syndrome 0
              Gillessen-Kaesbach-Nishimura Dysplasia 1
              Hordnes Engebretsen Knudtson syndrome 0
              Hunter-McAlpine Syndrome 0
              Iida Kannari Syndrome 0
              Jackson-Weiss syndrome 2
              Kleeblattschaedel Syndrome 0
              Loeys-Dietz syndrome + 33
              Lowry Maclean syndrome 0
              Mehta Lewis Patton Syndrome 0
              Muenke syndrome 1
              Nonsyndromic Trigonocephaly + 2
              Opitz Trigonocephaly Syndrome 1
              Pfeiffer Tietze Welte Syndrome 0
              Piepkorn Karp Hickok syndrome 0
              Plagiocephaly and X-Linked Mental Retardation 0
              Sagittal Craniosynostosis with Dandy-Walker Malformation and Hydrocephalus 0
              Scaphocephaly, Maxillary Retrusion, and Mental Retardation 1
              Sensenbrenner syndrome + 8
              Shprintzen-Goldberg Craniosynostosis 54
              Skeletal Dysplasia, San Diego Type 0
              Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 0
              Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 0
              acrocephalosyndactylia + 8
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      musculoskeletal system disease 4326
        connective tissue disease 2796
          bone disease 2247
            bone development disease 1008
              dysostosis 309
                synostosis 205
                  craniosynostosis 169
                    3MC syndrome 1 15
                    Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development 1
                    Aurocephalosyndactyly 0
                    Baller-Gerold syndrome 1
                    Baraitser Rodeck Garner syndrome 0
                    Beare-Stevenson cutis gyrata syndrome 1
                    Bohring Syndrome 2
                    Brachycephaly, Trichomegaly, and Developmental Delay 1
                    Calabro Syndrome 0
                    Cole-Carpenter syndrome + 2
                    Craniosynostosis 2 1
                    Craniosynostosis 3 3
                    Craniosynostosis 4 2
                    Craniosynostosis 5 1
                    Craniosynostosis 6 1
                    Craniosynostosis 7 2
                    Craniosynostosis Mental Retardation Clefting Syndrome 0
                    Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 0
                    Craniosynostosis Syndrome, Autosomal Recessive 1
                    Craniosynostosis and Dental Anomalies 1
                    Craniosynostosis with Anomalies of the Cranial Base and Digits 0
                    Craniosynostosis with Ectopia Lentis 0
                    Craniosynostosis with Fibular Aplasia 0
                    Craniosynostosis with Ocular Abnormalities and Hallucal Defects 0
                    Craniosynostosis, Adelaide Type 0
                    Craniosynostosis, Anal Anomalies, and Porokeratosis 0
                    Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 0
                    Craniosynostosis, Philadelphia Type 0
                    Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 0
                    Craniotelencephalic Dysplasia 0
                    Crouzon syndrome + 24
                    Fine-Lubinsky Syndrome 0
                    Frontonasal Dysplasia 2 1
                    Genoa Syndrome 0
                    Gillessen-Kaesbach-Nishimura Dysplasia 1
                    Hordnes Engebretsen Knudtson syndrome 0
                    Hunter-McAlpine Syndrome 0
                    Iida Kannari Syndrome 0
                    Jackson-Weiss syndrome 2
                    Kleeblattschaedel Syndrome 0
                    Loeys-Dietz syndrome + 33
                    Lowry Maclean syndrome 0
                    Mehta Lewis Patton Syndrome 0
                    Muenke syndrome 1
                    Nonsyndromic Trigonocephaly + 2
                    Opitz Trigonocephaly Syndrome 1
                    Pfeiffer Tietze Welte Syndrome 0
                    Piepkorn Karp Hickok syndrome 0
                    Plagiocephaly and X-Linked Mental Retardation 0
                    Sagittal Craniosynostosis with Dandy-Walker Malformation and Hydrocephalus 0
                    Scaphocephaly, Maxillary Retrusion, and Mental Retardation 1
                    Sensenbrenner syndrome + 8
                    Shprintzen-Goldberg Craniosynostosis 54
                    Skeletal Dysplasia, San Diego Type 0
                    Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 0
                    Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 0
                    acrocephalosyndactylia + 8
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.