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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:craniosynostosis
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Accession:DOID:2340 term browser browse the term
Definition:A synostosis that results_in premature fusion located_in skull. (DO)
Synonyms:exact_synonym: Acrocephaly;   Brachycephaly;   CRANIOSYNOSTOSIS 1;   CRS;   CRS1;   Craniostenosis;   Craniosynostose;   Craniosynostosis Plagiocephaly;   Craniosynostosis, nonsyndromic unicoronal;   Lambdoid Synostosis;   Lambdoidal Craniosynostosis;   Metopic Synostoses;   Metopic Synostosis;   Oxycephaly;   Sagittal Synostoses;   Sagittal Synostosis;   Scaphocephaly;   Synostotic Anterior Plagiocephaly;   Synostotic Plagiocephaly;   Synostotic Posterior Plagiocephaly;   craniostenoses;   craniosynostoses;   craniosynostoses type 1;   craniosynostosis type 1;   lambdoid synostoses;   lambdoidal craniosynostoses;   premature closure of cranial sutures;   trigonocephaly;   unilateral coronal synostoses;   unilateral coronal synostosis
 narrow_synonym: CRANIOSYNOSTOSIS, NONSPECIFIC;   FGFR2 RELATED CRANIOSYNOSTOSIS;   SYNDROMIC CRANIOSYNOSTOSIS
 primary_id: MESH:D003398
 alt_id: OMIA:001551;   OMIM:123100
 xref: EFO:0009141;   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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Brachycephaly ClinVar PMID:25741868 NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
JBrowse link
G Alx4 ALX homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
JBrowse link
G Axin2 axin 2 ISS
ISO
OMIM:123100 | OMIM:182212 | OMIM:600593 | OMIM:600775 | OMIM:604757 | OMIM:615314 | OMIM:615529
ClinVar Annotator: match by term: Craniosynostosis
MouseDO
ClinVar
PMID:25741868 PMID:28492532 NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 susceptibility ISO DNA:SNPs:introns:rs10262453,rs17724206,rs1884302(human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:23160099 PMID:23160099 RGD:9684995 NCBI chr 8:21,013,865...21,437,934
Ensembl chr 8:21,013,944...21,437,930
JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23160099 NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532
JBrowse link
G Dedd2 death effector domain containing 2 ISO ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar PMID:28492532 NCBI chr 1:80,789,084...80,807,789
Ensembl chr 1:80,792,000...80,807,714
JBrowse link
G Efnb1 ephrin B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15166289 NCBI chr  X:64,257,351...64,270,158
Ensembl chr  X:64,257,351...64,270,157
JBrowse link
G Erf Ets2 repressor factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis
CTD
ClinVar
PMID:23354439 PMID:25741868 PMID:26097063 PMID:28492532 PMID:28808027 More... NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:26424790 NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:25741868 PMID:31837199 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:25741868 PMID:28492532 NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO DNA:missense mutation:exon:p.P250R (mouse)
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis, nonspecific
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:15605412 PMID:16764984 PMID:23657145 PMID:25064402 PMID:25741868 More... RGD:11567263 NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO DNA:substitutions:multiple (human)
ClinVar Annotator: match by term: Brachycephaly | ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2-related craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2 related craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2 related craniosynostosis
human cells in a rat model
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.Y105C, p.G384R (human)
ClinVar
CTD
RGD
PMID:1519658 PMID:1697263 PMID:2172978 PMID:4078868 PMID:7558045 More... RGD:6480630, RGD:12801469, RGD:8547554, RGD:12801484 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO DNA:missense mutation:cds:p.P250R(human)
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis, nonspecific
ClinVar
RGD
PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 More... RGD:11568028 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Flna filamin A ISO DNA:missense mutations:cds:multiple (human) RGD PMID:25873011 RGD:11531800 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Trigonocephaly
CTD
ClinVar
NCBI chr 5:97,321,275...97,469,523
Ensembl chr 5:97,322,538...97,469,543
JBrowse link
G Grik5 glutamate ionotropic receptor kainate type subunit 5 ISO ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr 1:80,605,878...80,667,896
Ensembl chr 1:80,605,892...80,667,125
JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar PMID:28492532 NCBI chr 1:80,815,843...80,825,732
Ensembl chr 1:80,815,850...80,825,802
JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:25741868 NCBI chr10:53,824,124...53,828,350
Ensembl chr10:53,825,574...53,828,097
JBrowse link
G Ift122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
JBrowse link
G Msx2 msh homeobox 2 ISO
ISS
craniosynostosis type 2, OMIM:604757, DNA:point mutation:exon:P148H
OMIM:123100 | OMIM:182212 | OMIM:600593 | OMIM:600775 | OMIM:604757 | OMIM:615314 | OMIM:615529
MouseDO
RGD
PMID:8968743 RGD:1600491 NCBI chr17:11,097,214...11,102,879
Ensembl chr17:11,097,103...11,102,879
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Lambdoid synostosis ClinVar PMID:25741868 PMID:29892087 PMID:31737537 NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
JBrowse link
G Nell1 neural EGFL like 1 IMP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:14672347 PMID:12235118 RGD:633405 NCBI chr 1:99,709,305...100,573,872
Ensembl chr 1:99,709,793...100,573,860
JBrowse link
G Nog noggin treatment ISO RGD PMID:19627528 RGD:8547554 NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
JBrowse link
G Pafah1b3 platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 ISO ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr 1:80,881,263...80,883,789
Ensembl chr 1:80,881,309...80,883,893
JBrowse link
G Pou2f2 POU class 2 homeobox 2 ISO ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr 1:80,682,330...80,769,756
Ensembl chr 1:80,685,741...80,724,261
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Brachycephaly ClinVar PMID:11992261 PMID:14644997 PMID:15539800 PMID:15723289 PMID:15987685 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Rabac1 Rab acceptor 1 ISO ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr 1:80,564,029...80,567,164
Ensembl chr 1:80,564,033...80,567,163
JBrowse link
G Smad6 SMAD family member 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
JBrowse link
G Tcf12 transcription factor 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23354436 NCBI chr 8:72,490,447...72,799,265
Ensembl chr 8:72,492,567...72,799,201
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:25741868 PMID:31837199 NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2 related craniosynostosis
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1240778 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 More... NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
JBrowse link
G Wdr35 WD repeat domain 35 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20817137 NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
JBrowse link
G Zfp526 zinc finger protein 526 ISO ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar PMID:28492532 NCBI chr 1:80,807,791...80,817,852
Ensembl chr 1:80,806,972...80,818,180
JBrowse link
G Zfp574 zinc finger protein 574 ISO ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr 1:80,667,984...80,678,257
Ensembl chr 1:80,664,259...80,679,427
JBrowse link
G Zic1 Zic family member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:91,908,548...91,918,020
Ensembl chr 8:91,908,576...91,912,731
JBrowse link
3MC syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Ahsg alpha-2-HS-glycoprotein ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:78,117,903...78,145,956
Ensembl chr11:78,117,918...78,145,999
JBrowse link
G Colec11 collectin sub-family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr 6:45,223,974...45,256,640
Ensembl chr 6:45,223,980...45,271,145
JBrowse link
G Crygs crystallin, gamma S ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:78,207,170...78,212,273
Ensembl chr11:78,207,170...78,212,273
JBrowse link
G Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:78,151,750...78,168,259
Ensembl chr11:78,150,429...78,180,407
JBrowse link
G Eif4a2 eukaryotic translation initiation factor 4A2 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:77,764,126...77,770,810
Ensembl chr11:77,764,124...77,770,781
JBrowse link
G Fetub fetuin B ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:78,082,158...78,093,022
Ensembl chr11:78,082,156...78,095,135
JBrowse link
G Hrg histidine-rich glycoprotein ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:78,054,488...78,069,402
Ensembl chr11:78,054,498...78,069,389
JBrowse link
G Kng2 kininogen 2 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:77,913,876...77,936,247
Ensembl chr11:77,909,612...78,002,971
JBrowse link
G LOC120095726 small nucleolar RNA SNORA63 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:77,766,654...77,766,782
Ensembl chr11:77,766,654...77,766,782
JBrowse link
G Masp1 MBL associated serine protease 1 ISO ClinVar Annotator: match by term: 3MC syndrome 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:17937425 PMID:18266249 PMID:21035106 PMID:21258343 PMID:22966085 More... NCBI chr11:77,334,794...77,405,271
Ensembl chr11:77,334,859...77,402,974
JBrowse link
G Rfc4 replication factor C subunit 4 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:77,749,642...77,764,123
Ensembl chr11:77,749,638...77,764,122
JBrowse link
G Rpl39l ribosomal protein L39-like ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr10:5,455,712...5,459,828
Ensembl chr10:5,454,559...5,462,029
JBrowse link
G Rtp1 receptor (chemosensory) transporter protein 1 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:77,422,982...77,425,498
Ensembl chr11:77,422,982...77,425,498
JBrowse link
G Snora81 small nucleolar RNA, H/ACA box 81 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:77,767,579...77,767,756
Ensembl chr11:77,767,579...77,767,756
JBrowse link
G St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:77,526,837...77,653,474
Ensembl chr11:77,526,837...77,653,310
JBrowse link
G Tbccd1 TBCC domain containing 1 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:78,168,386...78,205,314
Ensembl chr11:78,168,388...78,205,523
JBrowse link
acrocephalosyndactylia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO DNA:missense mutation: :p.P252R (human) RGD PMID:7874169 PMID:25251565 RGD:11567243, RGD:11567271 NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 severity
treatment
ISO ClinVar Annotator: match by term: Acrocephalosyndactyly type I | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly | ClinVar Annotator: match by term: Craniofacial-skeletal-dermatologic dysplasia | ClinVar Annotator: match by term: Syndactylic oxycephaly
ClinVar Annotator: match by term: Acrocephalosyndactyly type I | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly | ClinVar Annotator: match by term: Syndactylic oxycephaly
DNA:missense mutation:cds:p.P253R (human)
DNA:missense mutation:cds:p.A172F (human)
DNA:missense mutations:cds:p.S252W, p.P253R (human)
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:
OMIM
ClinVar
CTD
RGD
PMID:7607643 PMID:7668257 PMID:7719344 PMID:7719345 PMID:7773284 More... RGD:12801488, RGD:12801475, RGD:12801474, RGD:12801413, RGD:8547743 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly ClinVar PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO SCS,OMIM:101400;DNA:point mutation:exon:Y103X,Q119P
ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1240778 PMID:8968762 PMID:8988167 PMID:9259286 PMID:9585583 More... RGD:1624353 NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
JBrowse link
acrofacial dysostosis Cincinnati type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1a RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Acrofacial dysostosis Cincinnati type OMIM
ClinVar
PMID:25741868 PMID:25913037 PMID:28492532 NCBI chr 4:103,950,051...104,014,022
Ensembl chr 4:103,950,051...104,014,020
JBrowse link
acromelic frontonasal dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zswim6 zinc finger, SWIM-type containing 6 ISO ClinVar Annotator: match by term: Acromelic frontonasal dysostosis OMIM
ClinVar
PMID:25105228 PMID:25741868 PMID:26706854 PMID:28492532 NCBI chr 2:39,211,131...39,378,877
Ensembl chr 2:39,212,949...39,378,924
JBrowse link
Antley-Bixler syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp51 cytochrome P450, family 51 ISO RGD PMID:21705796 RGD:41412188 NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures
DNA:missense mutations:cds:multiple (human)
CTD
ClinVar
RGD
PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8434615 More... RGD:12801485 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Por cytochrome p450 oxidoreductase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: POR Deficiency
CTD
ClinVar
PMID:12116245 PMID:14758361 PMID:15220035 PMID:15793702 PMID:16906539 More... NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
JBrowse link
Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis OMIM
ClinVar
PMID:9360545 PMID:12116245 PMID:14513299 PMID:14758361 PMID:15220035 More... NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
JBrowse link
ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis OMIM
ClinVar
PMID:7607643 PMID:7668257 PMID:7719344 PMID:7719345 PMID:7773284 More... NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Por cytochrome p450 oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
JBrowse link
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development OMIM
ClinVar
PMID:25741868 PMID:29432562 PMID:30904718 NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
JBrowse link
autosomal recessive craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive OMIM
ClinVar
PMID:11146471 PMID:23951358 PMID:25741868 PMID:28492532 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link
Baller-Gerold syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpt glutamic--pyruvic transaminase ISO ClinVar Annotator: match by term: Baller-Gerold syndrome ClinVar PMID:28492532 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494
JBrowse link
G Lrrc14 leucine rich repeat containing 14 ISO ClinVar Annotator: match by term: Baller-Gerold syndrome ClinVar PMID:12734318 PMID:12952869 PMID:28492532 NCBI chr 7:108,430,779...108,437,118
Ensembl chr 7:108,430,792...108,437,111
JBrowse link
G Mfsd3 major facilitator superfamily domain containing 3 ISO ClinVar Annotator: match by term: Baller-Gerold syndrome ClinVar PMID:28492532 NCBI chr 7:108,419,644...108,423,469
Ensembl chr 7:108,421,350...108,423,461
JBrowse link
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Baller-Gerold syndrome OMIM
ClinVar
PMID:9536098 PMID:9878247 PMID:10319867 PMID:10678659 PMID:12734318 More... NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619
JBrowse link
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome OMIM
ClinVar
PMID:25488817 PMID:25741868 PMID:25792360 PMID:28492532 PMID:30039206 NCBI chr 1:95,359,961...95,375,827
Ensembl chr 1:95,360,284...95,375,877
JBrowse link
Beare-Stevenson cutis gyrata syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Beare-Stevenson cutis gyrata syndrome | ClinVar Annotator: match by term: Cutis Gyrata syndrome of Beare and Stevenson
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 More... NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
Bohring Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Bohring-Opitz syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16412590 PMID:18414213 PMID:20880116 PMID:21576631 PMID:21706002 More... NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
JBrowse link
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Bohring-Opitz syndrome ClinVar PMID:25741868 NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
JBrowse link
Brachycephaly, Trichomegaly, and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps23 ribosomal protein S23 ISO ClinVar Annotator: match by term: Brachycephaly, trichomegaly, and developmental delay OMIM
ClinVar
PMID:25741868 PMID:28257692 NCBI chr 2:22,079,339...22,080,909
Ensembl chr 2:22,079,302...22,080,918
JBrowse link
C syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd96 CD96 molecule ISO ClinVar Annotator: match by term: C syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:17847009 PMID:25741868 PMID:28492532 PMID:34906502 NCBI chr11:54,702,290...54,776,618
Ensembl chr11:54,702,290...54,776,621
JBrowse link
Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag2 BAG cochaperone 2 ISO ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome ClinVar NCBI chr 9:35,970,033...35,980,677
Ensembl chr 9:35,970,033...35,980,721
JBrowse link
G Megf8 multiple EGF-like-domains 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Carpenter syndrome
CTD
ClinVar
NCBI chr 1:80,902,236...80,951,614
Ensembl chr 1:80,902,574...80,951,613
JBrowse link
G Rab23 RAB23, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ACPS 2 | ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome
CTD
ClinVar
PMID:16199547 PMID:17503333 PMID:20358613 PMID:21412941 PMID:23599695 More... NCBI chr 9:35,943,522...35,967,367
Ensembl chr 9:35,944,085...35,966,927
JBrowse link
Carpenter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag2 BAG cochaperone 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 1 ClinVar NCBI chr 9:35,970,033...35,980,677
Ensembl chr 9:35,970,033...35,980,721
JBrowse link
G Rab23 RAB23, member RAS oncogene family ISO ClinVar Annotator: match by term: Carpenter syndrome 1 OMIM
ClinVar
PMID:17503333 PMID:20358613 PMID:21412941 PMID:23599695 PMID:24458945 More... NCBI chr 9:35,943,522...35,967,367
Ensembl chr 9:35,944,085...35,966,927
JBrowse link
Carpenter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Megf8 multiple EGF-like-domains 8 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:23063620 PMID:25326635 PMID:25741868 More... NCBI chr 1:80,902,236...80,951,614
Ensembl chr 1:80,902,574...80,951,613
JBrowse link
Cole-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4hb prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cole-Carpenter syndrome
CTD
ClinVar
PMID:25741868 NCBI chr10:105,836,972...105,848,583
Ensembl chr10:105,836,982...105,848,500
JBrowse link
G Sec24d SEC24 homolog D, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:211,418,557...211,526,588
Ensembl chr 2:211,418,623...211,526,587
JBrowse link
Cole-Carpenter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4hb prolyl 4-hydroxylase subunit beta ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 OMIM
ClinVar
PMID:25683117 PMID:25741868 PMID:28492532 NCBI chr10:105,836,972...105,848,583
Ensembl chr10:105,836,982...105,848,500
JBrowse link
Cole-Carpenter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec24d SEC24 homolog D, COPII coat complex component ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome 2 OMIM
ClinVar
PMID:25683121 PMID:25741868 PMID:26467156 PMID:27942778 PMID:28492532 More... NCBI chr 2:211,418,557...211,526,588
Ensembl chr 2:211,418,623...211,526,587
JBrowse link
cranioectodermal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cranioectodermal dysplasia
CTD
ClinVar
PMID:23826986 PMID:24027799 PMID:25741868 PMID:28492532 NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
JBrowse link
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 6:105,729,734...105,806,257
Ensembl chr 6:105,729,792...105,806,257
JBrowse link
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:31,748,383...31,768,101
Ensembl chr 6:31,748,474...31,768,101
JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia ClinVar NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
JBrowse link
G Wdr19 WD repeat domain 19 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cranioectodermal dysplasia
CTD
ClinVar
PMID:23559409 PMID:25726036 PMID:25741868 PMID:26260382 PMID:27596865 More... NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
JBrowse link
G Wdr35 WD repeat domain 35 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndrome
CTD
ClinVar
PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:28332779 More... NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
JBrowse link
cranioectodermal dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17022080 PMID:17576681 PMID:19648123 More... NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
JBrowse link
G Mbd4 methyl-CpG binding domain 4 DNA glycosylase ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 ClinVar PMID:28492532 NCBI chr 4:148,893,049...148,904,833
Ensembl chr 4:148,894,280...148,904,982
JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 ClinVar PMID:28492532 NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773
JBrowse link
cranioectodermal dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar PMID:28492532 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
JBrowse link
G Gdf7 growth differentiation factor 7 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar PMID:28492532 NCBI chr 6:31,171,495...31,182,447
Ensembl chr 6:31,178,119...31,182,447
JBrowse link
G Hs1bp3 HCLS1 binding protein 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar PMID:28492532 NCBI chr 6:31,192,519...31,222,835
Ensembl chr 6:31,192,568...31,222,835
JBrowse link
G Laptm4a lysosomal protein transmembrane 4 alpha ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar PMID:28492532 NCBI chr 6:31,719,378...31,737,007
Ensembl chr 6:31,718,976...31,737,020
JBrowse link
G Ldah lipid droplet associated hydrolase ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar PMID:28492532 NCBI chr 6:31,082,045...31,166,625
Ensembl chr 6:31,082,055...31,166,618
JBrowse link
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:31,748,383...31,768,101
Ensembl chr 6:31,748,474...31,768,101
JBrowse link
G Pum2 pumilio RNA-binding family member 2 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar PMID:28492532 NCBI chr 6:31,462,879...31,542,976
Ensembl chr 6:31,462,872...31,542,976
JBrowse link
G Rhob ras homolog family member B ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar PMID:28492532 NCBI chr 6:31,363,752...31,365,926
Ensembl chr 6:31,363,548...31,366,108
JBrowse link
G Sdc1 syndecan 1 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar PMID:28492532 NCBI chr 6:31,562,799...31,585,267
Ensembl chr 6:31,562,739...31,585,264
JBrowse link
G Spag17 sperm associated antigen 17 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar NCBI chr 2:187,264,004...187,511,061
Ensembl chr 2:187,264,009...187,510,501
JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2
DNA:missense mutation:cds:p.L520P (human)
OMIM
ClinVar
RGD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20817137 PMID:21473986 More... RGD:11553909 NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
JBrowse link
cranioectodermal dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 3 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:21378380 PMID:24027799 PMID:25741868 More... NCBI chr 6:105,729,734...105,806,257
Ensembl chr 6:105,729,792...105,806,257
JBrowse link
cranioectodermal dysplasia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 4
DNA:missense mutation:cds:p.L750P (mouse)
OMIM
ClinVar
RGD
PMID:9536098 PMID:17576681 PMID:22019273 PMID:23559409 PMID:23683095 More... RGD:11552606 NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
JBrowse link
Craniosynostosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msx2 msh homeobox 2 ISO ClinVar Annotator: match by term: Craniosynostosis 2 OMIM
ClinVar
PMID:7597092 PMID:8357019 PMID:8968743 PMID:16319823 PMID:20301307 More... NCBI chr17:11,097,214...11,102,879
Ensembl chr17:11,097,103...11,102,879
JBrowse link
Craniosynostosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Coronal craniosynostosis ClinVar PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Tcf12 transcription factor 12 ISO ClinVar Annotator: match by term: Coronal craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 3 OMIM
ClinVar
PMID:23354436 PMID:24736737 PMID:25271085 PMID:25741868 PMID:28492532 More... NCBI chr 8:72,490,447...72,799,265
Ensembl chr 8:72,492,567...72,799,201
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Coronal craniosynostosis ClinVar NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
JBrowse link
Craniosynostosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Craniosynostosis 4 OMIM
ClinVar
PMID:23354439 PMID:25741868 PMID:26097063 PMID:27738187 PMID:28492532 More... NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Craniosynostosis 4 ClinVar PMID:25741868 PMID:29892087 PMID:31737537 NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
JBrowse link
Craniosynostosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 susceptibility ISO ClinVar Annotator: match by term: Craniosynostosis 5, susceptibility to ClinVar
OMIM
PMID:22829454 NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260
JBrowse link
Craniosynostosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zic1 Zic family member 1 ISO ClinVar Annotator: match by term: Craniosynostosis 6 OMIM
ClinVar
PMID:25741868 PMID:26340333 NCBI chr 8:91,908,548...91,918,020
Ensembl chr 8:91,908,576...91,912,731
JBrowse link
Craniosynostosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Craniosynostosis 7 ClinVar PMID:27606499 NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
JBrowse link
G Smad6 SMAD family member 6 susceptibility ISO ClinVar Annotator: match by term: CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: CRS7, DIGENIC | ClinVar Annotator: match by term: Craniosynostosis 7 OMIM
ClinVar
PMID:22275001 PMID:25741868 PMID:27606499 PMID:28492532 PMID:28808027 More... NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
JBrowse link
Craniosynostosis and Dental Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Craniosynostosis and dental anomalies OMIM
ClinVar
PMID:21741611 PMID:25741868 PMID:34906502 NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
JBrowse link
Craniosynostosis Syndrome, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848
JBrowse link
G Axin2 axin 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
JBrowse link
G Cnpy2 canopy FGF signaling regulator 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 7:748,877...754,352
Ensembl chr 7:749,008...755,519
JBrowse link
G Ctnna1 catenin alpha 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:31292255 NCBI chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910
JBrowse link
G Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 4:117,041,808...117,058,628
Ensembl chr 4:117,041,808...117,058,628
JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:9536098 PMID:10629055 PMID:12627230 PMID:15365636 PMID:15605412 More... NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:7607643 PMID:7719345 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:7493034 PMID:8723106 PMID:8841188 PMID:8880573 PMID:9042914 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:31292255 NCBI chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574
JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:21326280 PMID:22903559 PMID:24736735 PMID:25741868 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
JBrowse link
G Gpc4 glypican 4 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:31292255 NCBI chr  X:131,644,711...131,755,349
Ensembl chr  X:131,644,704...131,755,284
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
JBrowse link
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:30245513 PMID:31292255 NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606
JBrowse link
G Man2b1 mannosidase, alpha, class 2B, member 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr19:23,055,092...23,074,398
Ensembl chr19:23,055,097...23,074,389
JBrowse link
G Msx1 msh homeobox 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr14:72,961,170...72,964,970
Ensembl chr14:72,961,148...72,964,966
JBrowse link
G Msx2 msh homeobox 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar NCBI chr17:11,097,214...11,102,879
Ensembl chr17:11,097,103...11,102,879
JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:28492532 PMID:31837199 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
G Runx2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
JBrowse link
G Sox11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:31292255 NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354
JBrowse link
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665
JBrowse link
G Tcf12 transcription factor 12 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:30038786 PMID:31837199 NCBI chr 8:72,490,447...72,799,265
Ensembl chr 8:72,492,567...72,799,201
JBrowse link
G Tfap2b transcription factor AP-2 beta ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:31292255 NCBI chr 9:21,786,250...21,815,785
Ensembl chr 9:21,786,258...21,814,520
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar NCBI chr 7:81,916,668...82,142,733
Ensembl chr 7:81,921,601...82,141,905
JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:28492532 PMID:31837199 NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
JBrowse link
G Zfp462 zinc finger protein 462 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:28513610 NCBI chr 5:69,670,085...69,810,729
Ensembl chr 5:69,670,328...69,810,327
JBrowse link
Craniosynostosis with Ectopia Lentis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: Craniosynostosis with ectopia lentis ClinVar PMID:2056446 PMID:20564469 PMID:20702823 PMID:21051722 PMID:22736615 More... NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848
JBrowse link
Crouzon syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO DNA:missense mutations:CDS:multiple (human)
ClinVar Annotator: match by term: Craniofacial dysostosis | ClinVar Annotator: match by term: Craniofacial dysostosis type 1 | ClinVar Annotator: match by term: Crouzon disease | ClinVar Annotator: match by term: Crouzon syndrome
DNA:missense mutations:cds:p.Y281C, p.G289P (human)
DNA:missense mutations, silent mutation:cds:multiple (human)
DNA:missense mutations:cds:multiple (human)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:1519658 PMID:1697263 PMID:2172978 PMID:4078868 PMID:7573032 More... RGD:155663659, RGD:12801472, RGD:12801470, RGD:12801466 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Craniofacial dysostosis ClinVar PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO ClinVar Annotator: match by term: Crouzon syndrome ClinVar PMID:25741868 NCBI chr18:54,267,015...54,300,324
Ensembl chr18:54,267,026...54,300,324
JBrowse link
Crouzon syndrome-acanthosis nigricans syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Crouzon syndrome with acanthosis nigricans | ClinVar Annotator: match by term: Crouzon syndrome-acanthosis nigricans syndrome
DNA:missense mutation:p.A391E(human)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:1908846 PMID:7493034 PMID:7647778 PMID:7773297 PMID:8589699 More... RGD:11568032 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis OMIM
ClinVar
PMID:11424144 PMID:24942156 PMID:25741868 PMID:28492532 NCBI chr  X:20,064,102...20,072,673
Ensembl chr  X:20,064,103...20,072,620
JBrowse link
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100361854 ribosomal protein S26-like ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:17483715 PMID:19816270 PMID:23718193 PMID:24675553 PMID:24942156 More... NCBI chr  X:107,822,116...107,822,555
Ensembl chr  X:107,822,178...107,822,525
JBrowse link
G Rps28 ribosomal protein S28 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis OMIM
ClinVar
PMID:24942156 PMID:25741868 NCBI chr 7:14,607,801...14,609,170
Ensembl chr 7:14,607,801...14,609,170
JBrowse link
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:11424144 PMID:24942156 NCBI chr  X:20,064,102...20,072,673
Ensembl chr  X:20,064,103...20,072,620
JBrowse link
distal arthrogryposis type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 2A (Freeman-Sheldon) OMIM
ClinVar
PMID:16642020 PMID:18695058 PMID:25256237 PMID:25741868 PMID:30826400 NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
JBrowse link
Freeman-Sheldon syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniocarpotarsal dysplasia | ClinVar Annotator: match by term: Freeman-Sheldon syndrome
CTD
ClinVar
PMID:9536098 PMID:16642020 PMID:17576681 PMID:18414213 PMID:18695058 More... NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
JBrowse link
frontonasal dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 ISO ClinVar Annotator: match by term: Frontonasal dysplasia 2 OMIM
ClinVar
PMID:19692347 PMID:22140057 PMID:24668755 PMID:25741868 PMID:28492532 NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260
JBrowse link
Gillessen-Kaesbach-Nishimura Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Gillessen-Kaesbach-Nishimura syndrome | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE, WITH MICROBRACHYCEPHALY, HYPERTELORISM, AND BRACHYMELIA OMIM
ClinVar
PMID:25741868 PMID:25966638 PMID:26467025 PMID:28492532 PMID:31395617 NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261
JBrowse link
Goldenhar syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frk fyn-related Src family tyrosine kinase ISO ClinVar Annotator: match by term: Goldenhar syndrome ClinVar NCBI chr20:38,265,416...38,371,038
Ensembl chr20:38,265,280...38,371,114
JBrowse link
G Pax1 paired box 1 ISO ClinVar Annotator: match by term: Craniofacial microsomia ClinVar NCBI chr 3:134,789,291...134,801,636
Ensembl chr 3:134,789,182...134,801,636
JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: Craniofacial microsomia OMIM
ClinVar
PMID:7811205 PMID:34344887 NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759
JBrowse link
G Zic3 Zic family member 3 ISS OMIM:164210 MouseDO NCBI chr  X:136,123,662...136,134,295
Ensembl chr  X:136,124,026...136,134,746
JBrowse link
G Zyg11b zyg-11 family member B, cell cycle regulator ISO ClinVar Annotator: match by term: Goldenhar syndrome ClinVar PMID:25741868 PMID:32738032 NCBI chr 5:122,985,548...123,042,735
Ensembl chr 5:122,992,147...123,042,736
JBrowse link
Greig cephalopolysyndactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:25741868 NCBI chr10:11,138,966...11,262,067
Ensembl chr10:11,139,446...11,262,066
JBrowse link
G Coro7 coronin 7 ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:25741868 NCBI chr10:10,880,299...10,941,001
Ensembl chr10:10,885,196...10,941,001
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:25741868 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
JBrowse link
G Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:25741868 NCBI chr10:10,855,510...10,880,175
Ensembl chr10:10,854,732...10,880,161
JBrowse link
G Dnase1 deoxyribonuclease 1 ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:25741868 NCBI chr10:11,498,930...11,505,151
Ensembl chr10:11,498,931...11,501,869
JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome | ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome, severe | ClinVar Annotator: match by term: Polysyndactyly with peculiar skull shape
DNA:mutations:exon, intron:multiple
DNA:nonsense mutations, missense mutations, splice-site mutations:exon, intron:multiple
DNA:mutations: :multiple
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:1879832 PMID:6641002 PMID:9302279 PMID:9536098 PMID:10441342 More... RGD:12738222, RGD:12738208, RGD:12738205, RGD:12738141 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
JBrowse link
G Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:25741868 NCBI chr10:10,951,157...10,978,524
Ensembl chr10:10,951,371...10,971,578
JBrowse link
G Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:25741868 NCBI chr10:10,942,534...10,950,654
Ensembl chr10:10,943,001...10,950,649
JBrowse link
G Srl sarcalumenin ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:25741868 NCBI chr10:11,033,976...11,078,103
Ensembl chr10:11,034,035...11,078,101
JBrowse link
G Tfap4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:25741868 NCBI chr10:11,001,338...11,019,386
Ensembl chr10:11,002,911...11,019,386
JBrowse link
G Trap1 TNF receptor-associated protein 1 ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:25741868 NCBI chr10:11,464,882...11,498,931
Ensembl chr10:11,464,821...11,498,981
JBrowse link
G Vasn vasorin ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:25741868 NCBI chr10:10,917,750...10,928,259
Ensembl chr10:10,917,605...10,928,357
JBrowse link
Jackson-Weiss syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome OMIM
ClinVar
PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 More... NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome
DNA:missense mutation:cds:p.R344G (human)
OMIM
ClinVar
RGD
PMID:7581378 PMID:7719329 PMID:7719344 PMID:7719345 PMID:7773284 More... RGD:12801470 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
Loeys-Dietz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:2049575 PMID:21086191 PMID:24033266 PMID:25637381 PMID:25741868 More... NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar NCBI chr 9:47,448,736...47,598,396
Ensembl chr 9:47,448,736...47,598,154
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:1729284 PMID:7611299 PMID:8880577 PMID:8882780 PMID:10766875 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:7923625 PMID:10199307 PMID:10854329 PMID:14722581 PMID:16444274 More... NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:28492532 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Loeys-Dietz syndrome
CTD
ClinVar
PMID:9536098 PMID:17576681 PMID:21217753 PMID:22772368 PMID:24033266 More... NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome
CTD
ClinVar
PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 More... NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome
CTD
ClinVar
PMID:7737999 PMID:9536098 PMID:9683588 PMID:17576681 PMID:23824657 More... NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
CTD
ClinVar
PMID:2647812 PMID:15731757 PMID:16596670 PMID:16791849 PMID:16799921 More... NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
CTD
ClinVar
PMID:8246946 PMID:9395234 PMID:9590282 PMID:9771922 PMID:9927040 More... NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
JBrowse link
Loeys-Dietz syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 OMIM
ClinVar
PMID:2647812 PMID:15731757 PMID:16596670 PMID:16791849 PMID:16799921 More... NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 ClinVar PMID:16251899 PMID:16928994 PMID:18781618 PMID:18852674 PMID:19006214 More... NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
JBrowse link
Loeys-Dietz syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections ClinVar PMID:1301946 PMID:1569206 PMID:2005308 PMID:3495735 PMID:4750422 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
OMIM
ClinVar
PMID:8246946 PMID:8317497 PMID:9590282 PMID:9771922 PMID:9927040 More... NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 ClinVar PMID:9536098 PMID:16247757 PMID:17576681 PMID:23861362 PMID:24033266 More... NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727
JBrowse link
Loeys-Dietz syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C OMIM
ClinVar
PMID:15350224 PMID:16828225 PMID:17725494 PMID:21217753 PMID:21778426 More... NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C ClinVar PMID:25741868 PMID:27606499 PMID:28492532 PMID:30796334 PMID:32499606 NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
JBrowse link
Loeys-Dietz syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aida axin interactor, dorsalization associated ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:94,940,311...94,967,920
Ensembl chr13:94,939,741...94,967,920
JBrowse link
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:96,865,634...96,893,506
Ensembl chr13:96,868,580...96,893,503
JBrowse link
G Brox BRO1 domain and CAAX motif containing ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:94,920,107...94,940,189
Ensembl chr13:94,920,112...94,940,227
JBrowse link
G Disp1 dispatched RND transporter family member 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:94,720,928...94,866,702
Ensembl chr13:94,720,928...94,866,702
JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:95,613,716...95,651,716
Ensembl chr13:95,614,292...95,651,716
JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:96,901,548...96,971,966
Ensembl chr13:96,901,575...96,971,966
JBrowse link
G Esrrg estrogen-related receptor gamma ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:99,167,656...99,788,016
Ensembl chr13:99,564,669...99,783,397
JBrowse link
G Fam177b family with sequence similarity 177 member B ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:94,904,128...94,909,688 JBrowse link
G Gpatch2 G patch domain containing 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:98,784,969...98,925,696
Ensembl chr13:98,784,969...98,925,661
JBrowse link
G Hhipl2 HHIP like 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:95,054,685...95,074,609
Ensembl chr13:95,054,694...95,074,608
JBrowse link
G Hlx H2.0-like homeobox ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:96,280,335...96,285,750
Ensembl chr13:96,280,339...96,285,750
JBrowse link
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:96,831,773...96,865,533
Ensembl chr13:96,831,484...96,865,501
JBrowse link
G Kcnk2 potassium two pore domain channel subfamily K member 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:100,766,101...100,963,435
Ensembl chr13:100,766,113...100,963,435
JBrowse link
G Kctd3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:100,510,193...100,548,765
Ensembl chr13:100,510,195...100,548,718
JBrowse link
G Lyplal1 lysophospholipase-like 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28492532 PMID:28544325 NCBI chr13:97,626,451...97,657,901
Ensembl chr13:97,626,451...97,657,867
JBrowse link
G Mark1 microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:96,450,189...96,555,304
Ensembl chr13:96,451,487...96,555,173
JBrowse link
G Mia3 MIA SH3 domain ER export factor 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:94,970,421...95,012,071
Ensembl chr13:94,970,424...95,011,972
JBrowse link
G Mir194-1 microRNA 194-1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:96,851,166...96,851,248
Ensembl chr13:96,851,166...96,851,248
JBrowse link
G Mtarc1 mitochondrial amidoxime reducing component 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:96,324,377...96,362,677
Ensembl chr13:96,339,757...96,397,796
JBrowse link
G Mtarc2 mitochondrial amidoxime reducing component 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:96,362,810...96,397,284 JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
JBrowse link
G RGD1310587 similar to hypothetical protein FLJ14146 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:96,422,308...96,432,044
Ensembl chr13:96,422,302...96,432,068
JBrowse link
G Rrp15 ribosomal RNA processing 15 homolog ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:98,276,276...98,299,357
Ensembl chr13:98,276,134...98,299,370
JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103
JBrowse link
G Spata17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:98,605,986...98,784,855
Ensembl chr13:98,605,986...98,784,929
JBrowse link
G Taf1a TATA-box binding protein associated factor, RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:95,012,160...95,048,131
Ensembl chr13:95,029,225...95,048,087
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 OMIM
ClinVar
PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 More... NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:2618446 PMID:7737999 PMID:9536098 PMID:9683588 PMID:12529708 More... NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
JBrowse link
Loeys-Dietz syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 5 | ClinVar Annotator: match by term: Rienhoff syndrome OMIM
ClinVar
PMID:7737999 PMID:16199547 PMID:23824657 PMID:23861362 PMID:24798638 More... NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
JBrowse link
LOEYS-DIETZ SYNDROME 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad2 SMAD family member 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 6 OMIM
ClinVar
PMID:15210694 PMID:25741868 PMID:26247899 PMID:28283438 PMID:28492532 More... NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323
JBrowse link
Loeys-Dietz Syndrome, Type 1b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B ClinVar PMID:8246946 PMID:9590282 PMID:9771922 PMID:9927040 PMID:11212236 More... NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
JBrowse link
Mandibulofacial Dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO DNA:mutations:multiple (human) RGD PMID:23188108 RGD:10045556 NCBI chr10:87,804,893...87,852,181
Ensembl chr10:87,804,892...87,846,079
JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO CTD Direct Evidence: marker/mechanism CTD PMID:21131976 NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
JBrowse link
G Polr1d RNA polymerase I and III subunit D ISO CTD Direct Evidence: marker/mechanism CTD PMID:21131976 NCBI chr12:7,970,592...8,004,157
Ensembl chr12:7,970,595...8,005,624
JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16938878 NCBI chr18:54,267,015...54,300,324
Ensembl chr18:54,267,026...54,300,324
JBrowse link
mandibulofacial dysostosis with alopecia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednra endothelin receptor type A ISO ClinVar Annotator: match by term: Mandibulofacial dysostosis with alopecia OMIM
ClinVar
PMID:16116593 PMID:20583178 PMID:25741868 PMID:25772936 PMID:28492532 NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
JBrowse link
Mandibulofacial Dysostosis with Mental Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Mandibulofacial dysostosis with mental deficiency ClinVar PMID:9973280 PMID:10396622 PMID:11017087 PMID:11527935 PMID:11726554 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
JBrowse link
mandibulofacial dysostosis, Guion-Almeida type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO ClinVar Annotator: match by term: Mandibulofacial dysostosis-microcephaly syndrome
DNA:mutations:multiple (human)
OMIM
ClinVar
RGD
PMID:16760738 PMID:19334086 PMID:22305528 PMID:22541558 PMID:23188108 More... RGD:10045557 NCBI chr10:87,804,893...87,852,181
Ensembl chr10:87,804,892...87,846,079
JBrowse link
Muenke syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Muenke syndrome | ClinVar Annotator: match by term: Syndrome of coronal craniosynostosis OMIM
ClinVar
PMID:1908846 PMID:7647778 PMID:7773297 PMID:8589699 PMID:8723106 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
Nager acrofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sf3b4 splicing factor 3B subunit 4 ISO DNA:mutations:exon:multiple (human)
DNA:mutations, haploinsufficiency:exon:multiple (human)
ClinVar Annotator: match by term: Nager syndrome
OMIM
ClinVar
RGD
PMID:22541558 PMID:23568615 PMID:25741868 PMID:28492532 PMID:23568615 More... RGD:155804295, RGD:11062353 NCBI chr 2:183,732,791...183,737,545
Ensembl chr 2:183,732,754...183,737,959
JBrowse link
Nonsyndromic Trigonocephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Trigonocephaly, nonsyndromic ClinVar NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISO DNA:deletion, duplication,missense mutation:cds:
DNA:mutations:cds:
RGD PMID:21931569 PMID:21931569 RGD:11554186, RGD:11554186 NCBI chr 5:97,321,275...97,469,523
Ensembl chr 5:97,322,538...97,469,543
JBrowse link
oblique facial clefting 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO ClinVar Annotator: match by term: Oculomaxillofacial dysostosis OMIM
ClinVar
PMID:21703590 PMID:25741868 PMID:28492532 NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665
JBrowse link
Patterson Stevenson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb development membrane protein 1 ISO ClinVar Annotator: match by term: POLYDACTYLY OF TRIPHALANGEAL THUMB | ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME | ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar
OMIM
PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:17300748 More... NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME ClinVar PMID:12204003 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
G Rnf32 ring finger protein 32 ISO ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630 NCBI chr 4:6,144,749...6,209,320
Ensembl chr 4:6,149,841...6,209,257
JBrowse link
G Shh sonic hedgehog signaling molecule ISO DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
JBrowse link
Pfeiffer syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome OMIM
ClinVar
PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 More... NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome
DNA:mutations:CDS:multiple (human)
DNA:SNPs, missense mutation:splice junction, CDS:multiple (human)
OMIM
ClinVar
RGD
PMID:7581378 PMID:7607643 PMID:7719333 PMID:7719344 PMID:7719345 More... RGD:155782906, RGD:155663661 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
postaxial acrofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhodh dihydroorotate dehydrogenase (quinone) ISO ClinVar Annotator: match by term: Miller syndrome OMIM
ClinVar
PMID:19915526 PMID:20220176 PMID:21346561 PMID:22692683 PMID:22967083 More... NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654
JBrowse link
Robinow Sorauf Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Acrocephalosyndactyly, Robinow-Sorauf type | ClinVar Annotator: match by term: Robinow-Sorauf syndrome OMIM
ClinVar
PMID:1240778 PMID:10465122 PMID:12791045 PMID:25741868 PMID:28492532 NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
JBrowse link
Saethre-Chotzen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Chotzen syndrome | ClinVar Annotator: match by term: Saethre-Chotzen syndrome OMIM
ClinVar
PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 More... NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Saethre-Chotzen syndrome ClinVar PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ACS III | ClinVar Annotator: match by term: Chotzen syndrome | ClinVar Annotator: match by term: Saethre-Chotzen syndrome
CTD
ClinVar
OMIM
PMID:1240778 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 More... NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
JBrowse link
Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND IMPAIRED INTELLECTUAL DEVELOPMENT OMIM
ClinVar
PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 More... NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
Shprintzen-Goldberg Craniosynostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,500,781...166,515,477
Ensembl chr 5:166,500,781...166,515,481
JBrowse link
G Actrt2 actin-related protein T2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629
JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003
JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,398,359...166,400,616
Ensembl chr 5:166,397,748...166,400,953
JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482
JBrowse link
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338
JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,551,628...166,556,003
Ensembl chr 5:166,551,628...166,556,003
JBrowse link
G C5h1orf159 similar to human chromosome 1 open reading frame 159 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,701,485...166,719,939
Ensembl chr 5:166,701,676...166,719,955
JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,416,940...166,428,997
Ensembl chr 5:166,417,508...166,436,882
JBrowse link
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876
JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071
JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,474,947...166,479,103
Ensembl chr 5:166,474,966...166,479,017
JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
JBrowse link
G Faap20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:20635359 PMID:23892090 PMID:28492532 NCBI chr 5:165,808,370...165,815,291
Ensembl chr 5:165,808,657...165,815,333
JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,299,587...166,311,477
Ensembl chr 5:166,300,122...166,310,326
JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,522,138...165,523,684
Ensembl chr 5:165,522,234...165,523,001
JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651
JBrowse link
G Mib2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,243,776...166,259,944
Ensembl chr 5:166,243,776...166,259,650
JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,648,494...166,648,582 JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543
JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716
JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,239,643...166,242,734
Ensembl chr 5:166,239,644...166,242,433
JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:20635359 PMID:23892090 PMID:28492532 NCBI chr 5:165,646,817...165,704,892
Ensembl chr 5:165,646,991...165,704,892
JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,408,962...166,413,492
Ensembl chr 5:166,408,962...166,413,492
JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,448,919...166,453,645
Ensembl chr 5:166,449,154...166,453,636
JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,145,708...166,176,328
Ensembl chr 5:166,145,481...166,176,322
JBrowse link
G Pank4 pantothenate kinase 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135
JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356
JBrowse link
G Prkcz protein kinase C, zeta ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,462,610...165,465,213 JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,496,755...166,500,611
Ensembl chr 5:166,496,755...166,500,611
JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750
JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,720,408...166,726,236
Ensembl chr 5:166,724,984...166,725,751
JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521
JBrowse link
G Ski Ski proto-oncogene ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7977351 PMID:8449506 PMID:8981946 PMID:9536098 PMID:15979919 More... NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
JBrowse link
G Slc35e2b solute carrier family 35, member E2B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021
JBrowse link
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,312,267...166,343,432
Ensembl chr 5:166,313,650...166,343,429
JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,469,589...166,472,742
Ensembl chr 5:166,469,589...166,472,742
JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,344,000...166,350,210
Ensembl chr 5:166,344,386...166,350,636
JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,048,667...166,050,423
Ensembl chr 5:166,046,565...166,050,433
JBrowse link
G Tmem88b transmembrane protein 88B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,391,080...166,393,904
Ensembl chr 5:166,391,080...166,393,904
JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703
JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599
JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,411,063...165,428,864
Ensembl chr 5:165,411,058...165,428,857
JBrowse link
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,630,147...166,644,114
Ensembl chr 5:166,630,152...166,653,707
JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,533,374...166,547,811
Ensembl chr 5:166,533,418...166,547,804
JBrowse link
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637
JBrowse link
STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zic1 Zic family member 1 ISO ClinVar Annotator: match by term: Structural brain anomalies with impaired intellectual development and craniosynostosis OMIM
ClinVar
PMID:26340333 PMID:30391508 NCBI chr 8:91,908,548...91,918,020
Ensembl chr 8:91,908,576...91,912,731
JBrowse link
Treacher Collins syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcof1 treacle ribosome biogenesis factor 1 ISO
ISS
ClinVar Annotator: match by term: Treacher Collins Syndrome, Dominant | ClinVar Annotator: match by term: Treacher Collins syndrome
OMIM:154500 | OMIM:248390 | OMIM:613717
ClinVar
MouseDO
RGD
PMID:25741868 PMID:9096354 RGD:1599379 NCBI chr18:54,267,015...54,300,324
Ensembl chr18:54,267,026...54,300,324
JBrowse link
Treacher Collins syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcof1 treacle ribosome biogenesis factor 1 ISO ClinVar Annotator: match by term: Treacher Collins syndrome 1 OMIM
ClinVar
PMID:8563749 PMID:8894686 PMID:9042910 PMID:9096354 PMID:9536098 More... NCBI chr18:54,267,015...54,300,324
Ensembl chr18:54,267,026...54,300,324
JBrowse link
Treacher Collins syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1d RNA polymerase I and III subunit D ISO ClinVar Annotator: match by term: Treacher Collins syndrome 2 OMIM
ClinVar
PMID:21131976 PMID:24603435 PMID:25741868 NCBI chr12:7,970,592...8,004,157
Ensembl chr12:7,970,595...8,005,624
JBrowse link
Treacher Collins syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: POLR1C-Related Disorders | ClinVar Annotator: match by term: Treacher Collins Syndrome, Recessive | ClinVar Annotator: match by term: Treacher Collins syndrome 3 OMIM
ClinVar
PMID:610060 PMID:11013442 PMID:21131976 PMID:22563501 PMID:22855961 More... NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
JBrowse link
Treacher Collins syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1b RNA polymerase I subunit B ISO ClinVar Annotator: match by term: Treacher Collins syndrome 4 OMIM
ClinVar
PMID:25741868 PMID:31649276 NCBI chr 3:116,333,910...116,358,385
Ensembl chr 3:116,333,889...116,358,379
JBrowse link
Trigonocephaly 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Trigonocephaly 1 OMIM
ClinVar
PMID:9536098 PMID:10629055 PMID:11173846 PMID:12627230 PMID:14513299 More... NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
Trigonocephaly 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frem1 Fras1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: Trigonocephaly 2 OMIM
ClinVar
PMID:11332973 PMID:21507892 PMID:21931569 PMID:25741868 PMID:26893459 More... NCBI chr 5:97,321,275...97,469,523
Ensembl chr 5:97,322,538...97,469,543
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    Developmental Disease 13102
      bone development disease 1904
        dysostosis 448
          synostosis 293
            craniosynostosis 234
              3MC syndrome 1 17
              Antley-Bixler syndrome + 3
              Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development 1
              Aurocephalosyndactyly 0
              Baller-Gerold syndrome 4
              Baraitser Rodeck Garner syndrome 0
              Beare-Stevenson cutis gyrata syndrome 1
              Bohring Syndrome 2
              Brachycephaly, Trichomegaly, and Developmental Delay 1
              C syndrome 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 32
              Craniosynostosis and Dental Anomalies 1
              Craniosynostosis with Anomalies of the Cranial Base and Digits 0
              Craniosynostosis with Ectopia Lentis 1
              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 + 29
              Fine-Lubinsky Syndrome 0
              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 + 42
              Lowry Maclean syndrome 0
              Mehta Lewis Patton Syndrome 0
              Muenke syndrome 1
              Nonsyndromic Trigonocephaly + 2
              Pfeiffer Tietze Welte Syndrome 0
              Piepkorn Karp Hickok syndrome 0
              Plagiocephaly and X-Linked Mental Retardation 0
              STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS 1
              Sagittal Craniosynostosis with Dandy-Walker Malformation and Hydrocephalus 0
              Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development 1
              Shprintzen-Goldberg Craniosynostosis 52
              Skeletal Dysplasia, San Diego Type 0
              Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 0
              acrocephalosyndactylia + 19
              cranioectodermal dysplasia + 17
              frontonasal dysplasia 2 1
              spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability 0
Path 2
Term Annotations click to browse term
  disease 18246
    disease of anatomical entity 17610
      musculoskeletal system disease 7303
        connective tissue disease 5158
          bone disease 3832
            bone development disease 1904
              dysostosis 448
                synostosis 293
                  craniosynostosis 234
                    3MC syndrome 1 17
                    Antley-Bixler syndrome + 3
                    Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development 1
                    Aurocephalosyndactyly 0
                    Baller-Gerold syndrome 4
                    Baraitser Rodeck Garner syndrome 0
                    Beare-Stevenson cutis gyrata syndrome 1
                    Bohring Syndrome 2
                    Brachycephaly, Trichomegaly, and Developmental Delay 1
                    C syndrome 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 32
                    Craniosynostosis and Dental Anomalies 1
                    Craniosynostosis with Anomalies of the Cranial Base and Digits 0
                    Craniosynostosis with Ectopia Lentis 1
                    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 + 29
                    Fine-Lubinsky Syndrome 0
                    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 + 42
                    Lowry Maclean syndrome 0
                    Mehta Lewis Patton Syndrome 0
                    Muenke syndrome 1
                    Nonsyndromic Trigonocephaly + 2
                    Pfeiffer Tietze Welte Syndrome 0
                    Piepkorn Karp Hickok syndrome 0
                    Plagiocephaly and X-Linked Mental Retardation 0
                    STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS 1
                    Sagittal Craniosynostosis with Dandy-Walker Malformation and Hydrocephalus 0
                    Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development 1
                    Shprintzen-Goldberg Craniosynostosis 52
                    Skeletal Dysplasia, San Diego Type 0
                    Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 0
                    acrocephalosyndactylia + 19
                    cranioectodermal dysplasia + 17
                    frontonasal dysplasia 2 1
                    spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability 0
paths to the root