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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:syndactyly
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Accession:DOID:11193 term browser browse the term
Definition:A synostosis that results_in the fusion of two or more digits. (DO)
Synonyms:exact_synonym: polysyndactyly;   symphalangism;   symphalangy;   syndactylia;   syndactylias;   syndactylies;   webbing of digits
 narrow_synonym: non-syndromic syndactyly
 primary_id: MESH:D013576
 xref: GARD:13181;   ICD10CM:Q70;   ICD9CM:755.1;   NCI:C125597;   NCI:C87125;   ORDO:90025
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGGF1 angiogenic factor with G-patch and FHA domains 1 ISO ClinVar Annotator: match by term: Non-syndromic syndactyly ClinVar PMID:25741868 NCBI chr 5:38,236,209...38,268,530
Ensembl chr 5:38,762,317...38,794,594 		JBrowse link
G CDH20 cadherin 20 ISO ClinVar Annotator: match by term: Non-syndromic syndactyly ClinVar PMID:25741868 NCBI chr18:54,706,558...54,928,744
Ensembl chr18:58,028,533...58,250,790 		JBrowse link
G CIBAR1 CBY1 interacting BAR domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30395363 NCBI chr 8:90,324,158...90,353,161
Ensembl chr 8:92,270,538...92,298,846 		JBrowse link
G CSNK2B casein kinase 2 beta ISO ClinVar Annotator: match by term: Syndactyly ClinVar PMID:25741868 PMID:28492532 PMID:33644862 PMID:34041744 NCBI chr 6:31,327,250...31,331,250 JBrowse link
G DLL3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Syndactyly ClinVar PMID:15717203 PMID:17041936 PMID:18485326 PMID:25741868 PMID:28492532 More... NCBI chr19:36,597,420...36,607,021 JBrowse link
G FBN2 fibrillin 2 ISO RGD PMID:11285249 RGD:1300320 NCBI chr 5:123,673,209...123,953,741
Ensembl chr 5:129,435,248...129,715,711 		JBrowse link
G FZD4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chr11:81,973,680...82,007,733
Ensembl chr11:85,611,989...85,616,065 		JBrowse link
G GDF5 growth differentiation factor 5 ISO DNA:insertion:cds: RGD PMID:18984342 RGD:12738203 NCBI chr20:31,761,199...31,766,229
Ensembl chr20:32,882,094...32,886,899 		JBrowse link
G GJA1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Syndactyly ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:119,213,513...119,227,617 JBrowse link
G GLI3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: polysyndactyly ClinVar NCBI chr 7:42,004,965...42,280,772
Ensembl chr 7:42,056,565...42,322,865 		JBrowse link
G HOXD13 homeobox D13 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr2B:63,372,517...63,375,731 JBrowse link
G IRF6 interferon regulatory factor 6 ISO popliteal pterygium syndrome, OMIM:119500 DNA:nonsense_mutation:CDS:amino acid Q393X RGD PMID:12219090 RGD:1600214 NCBI chr 1:185,361,612...185,382,516
Ensembl chr 1:190,226,727...190,247,145 		JBrowse link
G JAG2 jagged canonical Notch ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9531541 NCBI chr14:85,785,586...85,812,056
Ensembl chr14:105,569,837...105,585,878 		JBrowse link
G LRP2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: Non-syndromic syndactyly ClinVar PMID:25741868 PMID:28492532 NCBI chr2B:56,407,871...56,640,471
Ensembl chr2B:173,873,767...174,103,697 		JBrowse link
G LRP4 LDL receptor related protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16207730 NCBI chr11:46,808,090...46,868,649
Ensembl chr11:47,366,321...47,411,105 		JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr18:51,428,077...51,792,995
Ensembl chr18:54,867,149...55,123,423 		JBrowse link
G PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Syndactyly ClinVar PMID:25741868 PMID:28492532 NCBI chr19:36,510,855...36,526,623
Ensembl chr19:45,058,562...45,071,940 		JBrowse link
G RAB19 RAB19, member RAS oncogene family ISO ClinVar Annotator: match by term: Non-syndromic syndactyly ClinVar PMID:25741868 NCBI chr 7:132,345,288...132,367,298
Ensembl chr 7:144,824,042...144,844,761 		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 chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 treatment
severity		 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)		 OMIM
ClinVar
RGD		 PMID:1641873 PMID:7607643 PMID:7655462 PMID:7668257 PMID:7719344 More... RGD:12801474 RGD:12801488 NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815 		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 chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly ClinVar PMID:1240778 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 More... NCBI chr 7:19,761,041...19,765,665 JBrowse link
Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBLN1 fibulin 1 ISO ClinVar Annotator: match by term: Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects ClinVar PMID:24084572 NCBI chr22:26,390,379...26,488,737
Ensembl chr22:44,582,843...44,666,011 		JBrowse link
Bartsocas-Papas Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RIPK4 receptor interacting serine/threonine kinase 4 ISO ClinVar Annotator: match by term: Bartsocas-Papas syndrome 1 | ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE OMIM
ClinVar		 PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 More... NCBI chr21:28,062,975...28,091,323
Ensembl chr21:41,389,654...41,417,472 		JBrowse link
Bartsocas-Papas Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHUK component of inhibitor of nuclear factor kappa B kinase complex ISO ClinVar Annotator: match by term: Bartsocas-Papas syndrome 2 OMIM
ClinVar		 PMID:25691407 NCBI chr10:96,794,228...96,835,449
Ensembl chr10:100,280,490...100,316,918 		JBrowse link
brachydactyly-syndactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXD13 homeobox D13 ISO ClinVar Annotator: match by term: Brachydactyly-syndactyly syndrome | ClinVar Annotator: match by term: Brachydactyly-syndactyly-oligodactyly syndrome OMIM
ClinVar		 PMID:17236141 PMID:22233338 PMID:23995701 PMID:25741868 NCBI chr2B:63,372,517...63,375,731 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 6:56,730,297...56,743,123
Ensembl chr 6:58,360,889...58,373,733 		JBrowse link
G MEGF8 multiple EGF like domains 8 ISO ClinVar Annotator: match by term: Carpenter syndrome ClinVar NCBI chr19:39,213,339...39,265,391
Ensembl chr19:47,805,307...47,858,636 		JBrowse link
G RAB23 RAB23, member RAS oncogene family ISO ClinVar Annotator: match by term: ACPS 2 | ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17503333 PMID:17576681 PMID:20358613 More... NCBI chr 6:56,744,948...56,780,187
Ensembl chr 6:58,375,559...58,411,107 		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 6:56,730,297...56,743,123
Ensembl chr 6:58,360,889...58,373,733 		JBrowse link
G RAB23 RAB23, member RAS oncogene family ISO ClinVar Annotator: match by term: Carpenter syndrome 1 | ClinVar Annotator: match by term: RAB23-related condition OMIM
ClinVar		 PMID:17503333 PMID:20358613 PMID:21412941 PMID:23599695 PMID:24458945 More... NCBI chr 6:56,744,948...56,780,187
Ensembl chr 6:58,375,559...58,411,107 		JBrowse link
Carpenter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTMAP actin maturation protease ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:37,785,116...37,794,864
Ensembl chr19:46,292,232...46,302,127 		JBrowse link
G AKT2 AKT serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:37,275,799...37,331,971
Ensembl chr19:45,791,800...45,840,271 		JBrowse link
G ARHGEF1 Rho guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:38,771,343...38,796,174
Ensembl chr19:47,277,420...47,299,663 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:38,854,243...38,882,034
Ensembl chr19:47,358,281...47,384,716 		JBrowse link
G AXL AXL receptor tyrosine kinase ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:38,211,555...38,254,464
Ensembl chr19:46,719,615...46,761,747 		JBrowse link
G B3GNT8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:38,419,180...38,422,360
Ensembl chr19:46,925,762...46,926,955 		JBrowse link
G B9D2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:38,347,505...38,357,319
Ensembl chr19:46,853,954...46,864,014 		JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:38,391,618...38,418,826
Ensembl chr19:46,898,024...46,925,171 		JBrowse link
G BLVRB biliverdin reductase B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:37,496,344...37,516,127
Ensembl chr19:46,007,321...46,025,120 		JBrowse link
G C20H19orf47 chromosome 20 C19orf47 homolog ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:37,369,187...37,396,608
Ensembl chr19:45,883,009...45,910,012 		JBrowse link
G CCDC97 coiled-coil domain containing 97 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:38,303,248...38,318,114
Ensembl chr19:46,810,871...46,825,156 		JBrowse link
G CCNP cyclin P ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:37,266,426...37,271,829
Ensembl chr19:45,782,042...45,786,916 		JBrowse link
G CD79A CD79a molecule ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:38,765,067...38,769,556
Ensembl chr19:47,270,377...47,274,711 		JBrowse link
G CEACAM3 CEA cell adhesion molecule 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:38,683,496...38,698,429
Ensembl chr19:47,189,215...47,204,136 		JBrowse link
G CEACAM4 CEA cell adhesion molecule 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:38,512,661...38,520,693
Ensembl chr19:47,018,593...47,026,596 		JBrowse link
G CEACAM5 CEA cell adhesion molecule 5 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:38,599,814...38,620,954
Ensembl chr19:47,105,539...47,124,284 		JBrowse link
G CEACAM7 CEA cell adhesion molecule 7 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:38,564,526...38,579,621 JBrowse link
G CIC capicua transcriptional repressor ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:39,156,204...39,183,498
Ensembl chr19:47,751,520...47,774,699 		JBrowse link
G CLC Charcot-Leyden crystal galectin ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr13:95,374,662...95,375,973 JBrowse link
G CNFN cornifelin ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:39,274,761...39,278,019
Ensembl chr19:47,865,155...47,870,162 		JBrowse link
G COQ8B coenzyme Q8B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:37,735,725...37,761,160
Ensembl chr19:46,242,576...46,267,503 		JBrowse link
G CYP2B6 cytochrome P450 family 2 subfamily B member 6 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:38,003,083...38,028,980
Ensembl chr19:46,509,370...46,534,672 		JBrowse link
G CYP2F1 cytochrome P450 family 2 subfamily F member 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:38,124,921...38,137,574
Ensembl chr19:46,632,134...46,643,748 		JBrowse link
G CYP2S1 cytochrome P450 family 2 subfamily S member 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:38,185,893...38,200,064
Ensembl chr19:46,693,025...46,705,950 		JBrowse link
G DEDD2 death effector domain containing 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:39,086,735...39,108,312
Ensembl chr19:47,678,915...47,700,431 		JBrowse link
G DLL3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:36,597,420...36,607,021 JBrowse link
G DMAC2 distal membrane arm assembly component 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:38,425,167...38,434,643
Ensembl chr19:46,931,519...46,940,861 		JBrowse link
G DMRTC2 DMRT like family C2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:38,735,791...38,741,017 JBrowse link
G DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:36,857,223...36,866,099
Ensembl chr19:45,405,431...45,411,387 		JBrowse link
G EGLN2 egl-9 family hypoxia inducible factor 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:37,842,460...37,851,465
Ensembl chr19:46,349,131...46,357,875 		JBrowse link
G EID2 EP300 interacting inhibitor of differentiation 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:36,636,855...36,638,308 JBrowse link
G EID2B EP300 interacting inhibitor of differentiation 2B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:36,629,480...36,631,665
Ensembl chr19:45,178,537...45,179,022 		JBrowse link
G ERF ETS2 repressor factor ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:39,135,757...39,143,343
Ensembl chr19:47,728,192...47,735,808 		JBrowse link
G ERICH4 glutamate rich 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:38,436,330...38,438,705
Ensembl chr19:46,942,980...46,944,883 		JBrowse link
G EXOSC5 exosome component 5 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:38,379,884...38,391,309
Ensembl chr19:46,886,326...46,897,703 		JBrowse link
G FBL fibrillarin ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:36,866,329...36,878,293
Ensembl chr19:45,413,978...45,425,930 		JBrowse link
G FCGBP Fc gamma binding protein ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532
G GRIK5 glutamate ionotropic receptor kainate type subunit 5 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:38,886,108...38,956,938
Ensembl chr19:47,389,804...47,544,604 		JBrowse link
G GSK3A glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:39,118,330...39,130,768
Ensembl chr19:47,710,197...47,726,948 		JBrowse link
G HIPK4 homeodomain interacting protein kinase 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:37,427,496...37,439,259 JBrowse link
G HNRNPUL1 heterogeneous nuclear ribonucleoprotein U like 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:38,255,183...38,300,877
Ensembl chr19:46,762,459...46,808,374 		JBrowse link
G ITPKC inositol-trisphosphate 3-kinase C ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:37,761,221...37,785,118
Ensembl chr19:46,267,754...46,290,935 		JBrowse link
G LEUTX leucine twenty homeobox ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:36,814,652...36,816,787
Ensembl chr19:45,357,390...45,364,229 		JBrowse link
G LIPE lipase E, hormone sensitive type ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:39,289,162...39,315,067
Ensembl chr19:47,881,292...47,907,066 		JBrowse link
G LOC100976543 CEA cell adhesion molecule 6 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:38,648,451...39,559,050
Ensembl chr19:47,154,101...47,169,691 		JBrowse link
G LOC100978560 zinc finger protein 780B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:37,079,851...37,138,995
Ensembl chr19:45,635,424...45,653,314 		JBrowse link
G LTBP4 latent transforming growth factor beta binding protein 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:37,637,509...37,674,791
Ensembl chr19:46,144,485...46,181,636 		JBrowse link
G LYPD4 LY6/PLAUR domain containing 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:38,725,837...38,733,460
Ensembl chr19:47,231,778...47,239,581 		JBrowse link
G MAP3K10 mitogen-activated protein kinase kinase kinase 10 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:37,236,438...37,260,314
Ensembl chr19:45,753,354...45,775,137 		JBrowse link
G MEGF8 multiple EGF like domains 8 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23063620 PMID:25326635 More... NCBI chr19:39,213,339...39,265,391
Ensembl chr19:47,805,307...47,858,636 		JBrowse link
G MIA MIA SH3 domain containing ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:37,818,126...37,820,832
Ensembl chr19:46,325,755...46,328,065 		JBrowse link
G NUMBL NUMB like endocytic adaptor protein ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:37,710,882...37,734,873
Ensembl chr19:46,217,935...46,238,103 		JBrowse link
G PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:39,184,734...39,190,522 JBrowse link
G PLD3 phospholipase D family member 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:37,396,475...37,426,425
Ensembl chr19:45,910,035...45,939,343 		JBrowse link
G PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:36,510,855...36,526,623
Ensembl chr19:45,058,562...45,071,940 		JBrowse link
G POU2F2 POU class 2 homeobox 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:38,974,635...39,065,103
Ensembl chr19:47,570,891...47,611,589 		JBrowse link
G PRR19 proline rich 19 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:39,189,839...39,198,524
Ensembl chr19:47,780,843...47,789,689 		JBrowse link
G PRX periaxin ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:37,442,299...37,461,844
Ensembl chr19:45,952,420...45,971,987 		JBrowse link
G PSMC4 proteasome 26S subunit, ATPase 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:37,018,112...37,028,490
Ensembl chr19:45,533,141...45,543,245 		JBrowse link
G RAB4B RAB4B, member RAS oncogene family ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:37,821,564...37,840,257
Ensembl chr19:46,328,788...46,346,492 		JBrowse link
G RABAC1 Rab acceptor 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:38,844,358...38,847,068
Ensembl chr19:47,348,367...47,351,058 		JBrowse link
G RPS16 ribosomal protein S16 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:36,531,284...36,534,156
Ensembl chr19:45,079,106...45,085,351 		JBrowse link
G RPS19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:38,748,604...38,760,055
Ensembl chr19:47,254,157...47,264,953 		JBrowse link
G SELENOV selenoprotein V ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:36,613,072...36,619,852
Ensembl chr19:45,161,229...45,165,738 		JBrowse link
G SERTAD1 SERTA domain containing 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:37,471,006...37,474,528 JBrowse link
G SERTAD3 SERTA domain containing 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:37,489,388...37,493,147
Ensembl chr19:46,001,062...46,001,652 		JBrowse link
G SHKBP1 SH3KBP1 binding protein 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:37,621,867...37,636,431
Ensembl chr19:46,128,717...46,143,423 		JBrowse link
G SNRPA small nuclear ribonucleoprotein polypeptide A ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:37,795,139...37,809,265
Ensembl chr19:46,302,198...46,316,593 		JBrowse link
G SPTBN4 spectrin beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:37,515,420...37,621,473
Ensembl chr19:46,042,387...46,127,429 		JBrowse link
G SUPT5H SPT5 homolog, DSIF elongation factor subunit ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:36,543,998...36,575,161
Ensembl chr19:45,092,075...45,122,335 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973 		JBrowse link
G TIMM50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:36,578,969...36,589,598
Ensembl chr19:45,126,266...45,135,984 		JBrowse link
G TMEM145 transmembrane protein 145 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:39,201,037...39,212,761
Ensembl chr19:47,793,267...47,804,526 		JBrowse link
G TMEM91 transmembrane protein 91 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:38,356,797...38,377,601
Ensembl chr19:46,853,711...46,884,051 		JBrowse link
G TTC9B tetratricopeptide repeat domain 9B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:37,260,791...37,263,267 JBrowse link
G ZNF526 zinc finger protein 526 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:39,108,454...39,115,200 JBrowse link
G ZNF546 zinc finger protein 546 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:37,043,584...37,063,413
Ensembl chr19:45,568,547...45,578,318 		JBrowse link
G ZNF574 zinc finger protein 574 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr19:38,962,843...38,968,286
Ensembl chr19:47,547,382...47,560,710 		JBrowse link
Cenani-Lenz syndactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRP4 LDL receptor related protein 4 ISO ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome | ClinVar Annotator: match by term: SYNDACTYLY, TYPE VII | ClinVar Annotator: match by term: Syndactyly type 7
ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome | ClinVar Annotator: match by term: Syndactyly type 7		 OMIM
ClinVar		 PMID:7891385 PMID:9182770 PMID:9536098 PMID:10756427 PMID:11260233 More... NCBI chr11:46,808,090...46,868,649
Ensembl chr11:47,366,321...47,411,105 		JBrowse link
cleft lip-palate-ectodermal dysplasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NECTIN1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, MARGARITA ISLAND TYPE | ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, TYPE 4 | ClinVar Annotator: match by term: Zlotogora-Ogur syndrome OMIM
ClinVar		 PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 More... NCBI chr11:114,497,177...114,565,338
Ensembl chr11:118,401,321...118,493,090 		JBrowse link
congenital heart defects, hamartomas of tongue, and polysyndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDPCP WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Heart defect - tongue hamartoma - polysyndactyly syndrome | ClinVar Annotator: match by term: WDPCP-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20671153 PMID:25326635 More... NCBI chr2A:63,180,279...63,658,804
Ensembl chr2A:64,325,379...64,785,256 		JBrowse link
Ectodermal Dysplasia-Syndactyly Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NECTIN4 nectin cell adhesion molecule 4 ISO ClinVar Annotator: match by term: Ectodermal dysplasia-syndactyly syndrome 1 OMIM
ClinVar		 PMID:20691405 PMID:21346770 PMID:24577405 PMID:25529316 PMID:25741868 More... NCBI chr 1:136,484,235...136,502,478
Ensembl chr 1:140,397,817...140,414,897 		JBrowse link
Filippi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CKAP2L cytoskeleton associated protein 2 like ISO ClinVar Annotator: match by term: Filippi syndrome OMIM
ClinVar		 PMID:8867657 PMID:15365457 PMID:18553552 PMID:25439729 PMID:25741868 More... NCBI chr2A:89,293,727...89,322,182
Ensembl chr2A:113,747,536...113,775,619 		JBrowse link
G NT5DC4 5'-nucleotidase domain containing 4 ISO ClinVar Annotator: match by term: Filippi syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr2A:89,315,647...89,336,907
Ensembl chr2A:113,732,812...113,753,637 		JBrowse link
Fraser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FRAS1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Cryptophthalmos with other malformations ClinVar PMID:12766769 PMID:16199547 PMID:18671281 PMID:25741868 PMID:28492532 More... NCBI chr 4:45,650,346...46,138,222
Ensembl chr 4:51,500,396...51,981,476 		JBrowse link
G FREM1 FRAS1 related extracellular matrix 1 ISO OMIM:219000 MouseDO NCBI chr 9:14,567,781...14,748,474
Ensembl chr 9:15,081,208...15,253,399 		JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Cryptophthalmos with other malformations ClinVar PMID:18203166 PMID:25741868 PMID:26552811 PMID:28492532 NCBI chr13:19,900,324...20,103,303
Ensembl chr13:38,490,750...38,687,048 		JBrowse link
G GRIP1 glutamate receptor interacting protein 1 ISO OMIM:219000 MouseDO NCBI chr12:21,841,611...22,562,418
Ensembl chr12:22,744,177...23,069,480 		JBrowse link
Fraser syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FRAS1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: FRAS1-related condition | ClinVar Annotator: match by term: Fraser syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:12766769 PMID:16199547 PMID:16894541 PMID:17163535 More... NCBI chr 4:45,650,346...46,138,222
Ensembl chr 4:51,500,396...51,981,476 		JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Fraser syndrome 1 ClinVar PMID:9536098 PMID:17576681 PMID:18203166 PMID:25741868 PMID:26275891 More... NCBI chr13:19,900,324...20,103,303
Ensembl chr13:38,490,750...38,687,048 		JBrowse link
G GRIP1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by term: Fraser syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:21,841,611...22,562,418
Ensembl chr12:22,744,177...23,069,480 		JBrowse link
Fraser syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FREM2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: FREM2-related condition | ClinVar Annotator: match by term: Fraser syndrome 2 OMIM
ClinVar		 PMID:15838507 PMID:18203166 PMID:18671281 PMID:24115501 PMID:24700879 More... NCBI chr13:19,900,324...20,103,303
Ensembl chr13:38,490,750...38,687,048 		JBrowse link
Fraser syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS14 ADAM metallopeptidase with thrombospondin type 1 motif 14 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr10:67,145,400...67,232,934
Ensembl chr10:69,671,222...69,758,229 		JBrowse link
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:24426771 PMID:28492532 NCBI chr17:6,463,812...6,473,636
Ensembl chr17:6,450,420...6,461,868 		JBrowse link
G ASPA aspartoacylase ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:28492532 NCBI chr17:3,492,304...3,517,882
Ensembl chr17:3,522,858...3,546,279 		JBrowse link
G BCLAF1 BCL2 associated transcription factor 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr 6:134,023,195...134,054,507
Ensembl chr 6:138,115,451...138,137,108 		JBrowse link
G BORCS6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr17:43,467,811...43,470,061
Ensembl chr17:48,200,155...48,201,228 		JBrowse link
G GNB5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr15:31,061,310...31,122,427
Ensembl chr15:49,388,026...49,452,123 		JBrowse link
G GRIP1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 OMIM
ClinVar		 PMID:21383172 PMID:22510445 PMID:24033266 PMID:25741868 PMID:26539891 More... NCBI chr12:21,841,611...22,562,418
Ensembl chr12:22,744,177...23,069,480 		JBrowse link
G LSM10 LSM10, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr 1:35,660,923...35,665,440
Ensembl chr 1:36,829,540...36,829,911 		JBrowse link
G MED23 mediator complex subunit 23 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr 6:129,386,301...129,428,120
Ensembl chr 6:133,481,115...133,535,988 		JBrowse link
G MPC1 mitochondrial pyruvate carrier 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr 6:164,331,604...164,349,747 JBrowse link
G MYO18B myosin XVIIIB ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:28492532 NCBI chr22:6,802,390...7,118,996
Ensembl chr22:24,529,348...24,816,779 		JBrowse link
G ODAD1 outer dynein arm docking complex subunit 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr19:45,297,346...45,322,895
Ensembl chr19:53,891,345...53,915,541 		JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453 		JBrowse link
G SPATA22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:28492532 NCBI chr17:3,120,296...3,532,343
Ensembl chr17:3,489,143...3,560,654 		JBrowse link
G TLCD3A TLC domain containing 3A ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr17:701,573...712,259
Ensembl chr17:626,175...634,640 		JBrowse link
G WDR81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr17:1,708,119...1,722,405
Ensembl chr17:1,594,162...1,616,138 		JBrowse link
G ZXDA zinc finger X-linked duplicated A ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr  X:50,161,480...50,230,262 JBrowse link
Grange Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G YY1AP1 YY1 associated protein 1 ISO ClinVar Annotator: match by term: GRANGE OCCLUSIVE ARTERIAL SYNDROME | ClinVar Annotator: match by term: Grange syndrome OMIM
ClinVar		 PMID:11241488 PMID:25741868 PMID:27939641 PMID:30556293 NCBI chr 1:130,995,949...131,024,985
Ensembl chr 1:134,594,908...134,623,588 		JBrowse link
Greig cephalopolysyndactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDK13 cyclin dependent kinase 13 ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr 7:44,138,345...44,285,606
Ensembl chr 7:44,177,204...44,324,683 		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 OMIM
ClinVar		 PMID:1879832 PMID:6641002 PMID:9302279 PMID:9536098 PMID:10441342 More... NCBI chr 7:42,004,965...42,280,772
Ensembl chr 7:42,056,565...42,322,865 		JBrowse link
G INHBA inhibin subunit beta A ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr 7:42,538,591...42,556,578
Ensembl chr 7:42,580,730...42,595,097 		JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr 7:44,100,768...44,102,786
Ensembl chr 7:44,139,855...44,141,991 		JBrowse link
G RALA RAS like proto-oncogene A ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr 7:44,528,146...44,611,431
Ensembl chr 7:44,559,380...44,580,495 		JBrowse link
G SUGCT succinyl-CoA:glutarate-CoA transferase ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr 7:43,381,156...44,100,614
Ensembl chr 7:43,421,615...44,139,738 		JBrowse link
lacrimoauriculodentodigital syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF10 fibroblast growth factor 10 ISO ClinVar Annotator: match by term: Levy-Hollister syndrome ClinVar PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532 NCBI chr 5:65,979,443...66,069,314
Ensembl chr 5:71,028,187...71,111,706 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Levy-Hollister syndrome OMIM
ClinVar		 PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Levy-Hollister syndrome ClinVar PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692 		JBrowse link
lacrimoauriculodentodigital syndrome 2 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: Lacrimoauriculodentodigital syndrome 2 OMIM
ClinVar		 NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692 		JBrowse link
lacrimoauriculodentodigital syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF10 fibroblast growth factor 10 ISO ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 3 OMIM
ClinVar		 PMID:15654336 PMID:16501574 PMID:16630169 PMID:37077496 NCBI chr 5:65,979,443...66,069,314
Ensembl chr 5:71,028,187...71,111,706 		JBrowse link
LADD syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF10 fibroblast growth factor 10 ISO ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome ClinVar PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532 NCBI chr 5:65,979,443...66,069,314
Ensembl chr 5:71,028,187...71,111,706 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome ClinVar PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome ClinVar PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692 		JBrowse link
Mesoaxial Synostotic Syndactyly with Phalangeal Reduction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BHLHA9 basic helix-loop-helix family member a9 ISO ClinVar Annotator: match by term: Mesoaxial synostotic syndactyly with phalangeal reduction OMIM
ClinVar		 PMID:9783716 PMID:15039974 PMID:25466284 PMID:25741868 PMID:28492532 NCBI chr17:1,254,307...1,255,919 JBrowse link
oculodentodigital 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: Oculodentodigital dysplasia OMIM
ClinVar		 PMID:220941 PMID:1057461 PMID:2309863 PMID:4209752 PMID:7815444 More... NCBI chr 6:119,213,513...119,227,617 JBrowse link
Oculodentodigital Dysplasia, Autosomal Recessive 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: Oculodentodigital dysplasia, autosomal recessive OMIM
ClinVar		 PMID:2309863 PMID:11146471 PMID:11470490 PMID:12457340 PMID:14729836 More... NCBI chr 6:119,213,513...119,227,617 JBrowse link
G TBC1D32 TBC1 domain family member 32 ISO ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive ClinVar PMID:28492532 NCBI chr 6:118,884,928...119,139,138
Ensembl chr 6:123,022,008...123,273,810 		JBrowse link
orofacial cleft 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NECTIN1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Orofacial cleft 7 ClinVar PMID:10932188 PMID:11559849 NCBI chr11:114,497,177...114,565,338
Ensembl chr11:118,401,321...118,493,090 		JBrowse link
Periventricular Nodular Heterotopia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEDD4L NEDD4 like E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: NEDD4L-related condition | ClinVar Annotator: match by term: Periventricular nodular heterotopia 7 | ClinVar Annotator: match by term: Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay OMIM
ClinVar		 PMID:25741868 PMID:27694961 PMID:28492532 PMID:28515470 PMID:32117442 More... NCBI chr18:51,428,077...51,792,995
Ensembl chr18:54,867,149...55,123,423 		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 | ClinVar Annotator: match by term: Pfeiffer syndrome type 1 OMIM
ClinVar		 PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 More... NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904 		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 OMIM
ClinVar		 PMID:7581378 PMID:7607643 PMID:7655462 PMID:7668257 PMID:7719329 More... NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815 		JBrowse link
popliteal pterygium syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IRF6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: Faciogenitopopliteal syndrome | ClinVar Annotator: match by term: Popliteal pterygium syndrome OMIM
ClinVar		 PMID:12219090 PMID:14757865 PMID:15558496 PMID:16096995 PMID:17551329 More... NCBI chr 1:185,361,612...185,382,516
Ensembl chr 1:190,226,727...190,247,145 		JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 ISO ClinVar Annotator: match by term: Popliteal pterygium syndrome ClinVar NCBI chr21:28,062,975...28,091,323
Ensembl chr21:41,389,654...41,417,472 		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:10749989 PMID:12791045 PMID:19952666 More... NCBI chr 7:19,761,041...19,765,665 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:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815 		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 chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: ACS III | ClinVar Annotator: match by term: Chotzen syndrome | ClinVar Annotator: match by term: Saethre-Chotzen syndrome OMIM
ClinVar		 PMID:1240778 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 More... NCBI chr 7:19,761,041...19,765,665 JBrowse link
sclerosteosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRP4 LDL receptor related protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:46,808,090...46,868,649
Ensembl chr11:47,366,321...47,411,105 		JBrowse link
G SOST sclerostin ISO DNA:transition: :69C>T (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:11179006 RGD:68858 NCBI chr17:13,639,088...13,644,152
Ensembl chr17:13,804,374...13,809,432 		JBrowse link
sclerosteosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOST sclerostin ISO ClinVar Annotator: match by term: SOST-related condition | ClinVar Annotator: match by term: Sclerosteosis 1 OMIM
ClinVar		 PMID:11179006 PMID:11181578 PMID:19072561 PMID:21221996 PMID:25741868 More... NCBI chr17:13,639,088...13,644,152
Ensembl chr17:13,804,374...13,809,432 		JBrowse link
sclerosteosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRP4 LDL receptor related protein 4 ISO ClinVar Annotator: match by term: Sclerosteosis 2 OMIM
ClinVar		 PMID:7891385 PMID:11385236 PMID:21471202 PMID:24234652 PMID:25741868 More... NCBI chr11:46,808,090...46,868,649
Ensembl chr11:47,366,321...47,411,105 		JBrowse link
Stapes Ankylosis with Broad Thumbs and Toes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKFN1 ankyrin repeat and fibronectin type III domain containing 1 ISO ClinVar Annotator: match by term: Stapes ankylosis with broad thumbs and toes ClinVar NCBI chr17:50,232,065...50,592,044
Ensembl chr17:55,166,165...55,449,215 		JBrowse link
G NOG noggin ISO ClinVar Annotator: match by term: Stapes ankylosis with broad thumbs and toes OMIM
ClinVar		 PMID:9851982 PMID:10069712 PMID:10080184 PMID:11160400 PMID:11545688 More... NCBI chr17:50,669,186...50,671,081
Ensembl chr17:55,532,394...55,533,092 		JBrowse link
syndactyly type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IHH Indian hedgehog signaling molecule ISO DNA:duplications RGD PMID:21167467 RGD:12910956 NCBI chr2B:106,312,472...106,319,124
Ensembl chr2B:224,906,271...224,911,506 		JBrowse link
G NHEJ1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: Syndactyly type 1 ClinVar NCBI chr2B:106,326,596...106,419,928
Ensembl chr2B:224,926,183...225,008,788 		JBrowse link
syndactyly type 3 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: Syndactyly type 3 OMIM
ClinVar		 PMID:2157843 PMID:11470490 PMID:14729836 PMID:15192806 PMID:18079109 More... NCBI chr 6:119,213,513...119,227,617 JBrowse link
syndactyly type 4 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: Syndactyly type 4 OMIM
ClinVar		 PMID:1849351 PMID:18417549 PMID:19847792 NCBI chr 7:148,301,263...148,512,407
Ensembl chr 7:159,999,389...160,152,858 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651 		JBrowse link
syndactyly type 5 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: Syndactyly type 5 ClinVar NCBI chr 6:119,213,513...119,227,617 JBrowse link
G HOXD13 homeobox D13 ISO ClinVar Annotator: match by term: Syndactyly type 5 | ClinVar Annotator: match by term: Syndactyly, type V OMIM
ClinVar		 PMID:215242 PMID:9207113 PMID:15333588 PMID:16222680 PMID:17236141 More... NCBI chr2B:63,372,517...63,375,731 JBrowse link
syndactyly type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF16 fibroblast growth factor 16 ISO ClinVar Annotator: match by term: Syndactyly type 8 OMIM
ClinVar		 PMID:23709756 PMID:24878828 NCBI chr  X:66,623,050...66,634,325
Ensembl chr  X:76,737,733...76,749,731 		JBrowse link
syndactyly-telecanthus-anogenital and renal malformations syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCNQ cyclin Q ISO ClinVar Annotator: match by term: Syndactyly-telecanthus-anogenital and renal malformations syndrome OMIM
ClinVar		 PMID:8818947 PMID:18297069 PMID:25741868 NCBI chr  X:143,138,574...143,149,824 JBrowse link
synpolydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXD13 homeobox D13 ISO ClinVar Annotator: match by term: Synpolydactyly ClinVar PMID:22233338 PMID:25741868 NCBI chr2B:63,372,517...63,375,731 JBrowse link
Synpolydactyly 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHST11 carbohydrate sulfotransferase 11 ISO ClinVar Annotator: match by term: Synpolydactyly type 1 ClinVar PMID:29514872 NCBI chr12:102,035,480...102,340,084
Ensembl chr12:105,431,075...105,731,172 		JBrowse link
G HOXD13 homeobox D13 severity ISO ClinVar Annotator: match by term: Synpolydactyly type 1
DNA:insertion:exon		 OMIM
ClinVar
RGD		 PMID:215242 PMID:7666393 PMID:8620844 PMID:8817328 PMID:9207113 More... RGD:12743592 NCBI chr2B:63,372,517...63,375,731 JBrowse link
Synpolydactyly 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBLN1 fibulin 1 ISO ClinVar Annotator: match by term: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr22:26,390,379...26,488,737
Ensembl chr22:44,582,843...44,666,011 		JBrowse link
tarsal-carpal coalition syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOG noggin ISO ClinVar Annotator: match by term: Tarsal-carpal coalition syndrome OMIM
ClinVar		 PMID:4019538 PMID:7557985 PMID:10080184 PMID:11545688 PMID:17245852 More... NCBI chr17:50,669,186...50,671,081
Ensembl chr17:55,532,394...55,533,092 		JBrowse link
Timothy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: CACNA1C-related disorder | ClinVar Annotator: match by term: Timothy syndrome | ClinVar Annotator: match by term: Timothy syndrome type 1 OMIM
ClinVar		 PMID:9536098 PMID:10343407 PMID:12166659 PMID:15454078 PMID:15863612 More... NCBI chr12:2,166,672...2,817,827
Ensembl chr12:2,114,140...2,744,826 		JBrowse link
Winter Shortland Temple Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMO smoothened, frizzled class receptor ISO ClinVar Annotator: match by term: Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development | ClinVar Annotator: match by term: Curry-Jones syndrome OMIM
ClinVar		 PMID:3144990 PMID:7606318 PMID:16531740 PMID:18798318 PMID:24728327 More... NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      bone development disease 2299
        dysostosis 582
          synostosis 376
            syndactyly 149
              Aphalangia Syndactyly Microcephaly 0
              Aurocephalosyndactyly 0
              Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects 1
              Blepharophimosis with Ptosis, Syndactyly, and Short Stature 0
              Bonneau Syndrome 0
              Cenani-Lenz syndactyly syndrome 1
              Crossed Polysyndactyly 0
              Duplication of Eyebrows with Stretchable Skin and Syndactyly 0
              Ectodermal Dysplasia, Mental Retardation, Syndactyly 0
              Ectodermal Dysplasia-Syndactyly Syndrome + 1
              Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 0
              Filippi syndrome 2
              Fraser syndrome + 20
              Frints De Smet Fabry Fryns Syndrome 0
              Gollop Coates Syndrome 0
              Grange Syndrome 1
              Green Sandford Davison Syndrome 0
              Kleiner Holmes Syndrome 0
              Kozlowski-Krajewska Syndrome 0
              LADD syndrome + 3
              Landy Donnai Syndrome 0
              Martinez Monasterio Pinheiro Syndrome 0
              Mesoaxial Synostotic Syndactyly with Phalangeal Reduction 1
              Naguib-Richieri-Costa Syndrome 0
              Pavone Fiumara Rizzo Syndrome 0
              Periventricular Nodular Heterotopia 7 1
              Pfeiffer Rockelein Syndrome 0
              Piepkorn Karp Hickok syndrome 0
              Poland syndrome 0
              Postaxial Polydactyly, Type A4 0
              Radio-Ulnar Synostosis Type 1 0
              Radio-Ulnar Synostosis Type 2 0
              Rosselli-Gulienetti Syndrome 0
              Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 0
              Stapes Ankylosis with Broad Thumbs and Toes 2
              Syndactyly Type 6 0
              Syndactyly-Polydactyly-Earlobe Syndrome 0
              Timothy syndrome 1
              Trueb Burg Bottani Syndrome 0
              Winter Shortland Temple Syndrome 1
              Zerres Rietschel Majewski Syndrome 0
              acrocephalosyndactylia + 90
              brachydactyly-syndactyly syndrome 1
              cleft lip-palate-ectodermal dysplasia syndrome 1
              congenital heart defects, hamartomas of tongue, and polysyndactyly 1
              oculodentodigital dysplasia + 2
              orofacial cleft 7 + 1
              popliteal pterygium syndrome + 3
              sclerosteosis + 2
              syndactyly type 1 2
              syndactyly type 3 1
              syndactyly type 4 2
              syndactyly type 5 2
              syndactyly type 8 1
              syndactyly-telecanthus-anogenital and renal malformations syndrome 1
              synpolydactyly + 3
              tarsal-carpal coalition syndrome + 1
              zygodactyly 1 0
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      musculoskeletal system disease 7804
        connective tissue disease 5332
          bone disease 3850
            bone development disease 2299
              dysostosis 582
                synostosis 376
                  syndactyly 149
                    Aphalangia Syndactyly Microcephaly 0
                    Aurocephalosyndactyly 0
                    Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects 1
                    Blepharophimosis with Ptosis, Syndactyly, and Short Stature 0
                    Bonneau Syndrome 0
                    Cenani-Lenz syndactyly syndrome 1
                    Crossed Polysyndactyly 0
                    Duplication of Eyebrows with Stretchable Skin and Syndactyly 0
                    Ectodermal Dysplasia, Mental Retardation, Syndactyly 0
                    Ectodermal Dysplasia-Syndactyly Syndrome + 1
                    Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 0
                    Filippi syndrome 2
                    Fraser syndrome + 20
                    Frints De Smet Fabry Fryns Syndrome 0
                    Gollop Coates Syndrome 0
                    Grange Syndrome 1
                    Green Sandford Davison Syndrome 0
                    Kleiner Holmes Syndrome 0
                    Kozlowski-Krajewska Syndrome 0
                    LADD syndrome + 3
                    Landy Donnai Syndrome 0
                    Martinez Monasterio Pinheiro Syndrome 0
                    Mesoaxial Synostotic Syndactyly with Phalangeal Reduction 1
                    Naguib-Richieri-Costa Syndrome 0
                    Pavone Fiumara Rizzo Syndrome 0
                    Periventricular Nodular Heterotopia 7 1
                    Pfeiffer Rockelein Syndrome 0
                    Piepkorn Karp Hickok syndrome 0
                    Poland syndrome 0
                    Postaxial Polydactyly, Type A4 0
                    Radio-Ulnar Synostosis Type 1 0
                    Radio-Ulnar Synostosis Type 2 0
                    Rosselli-Gulienetti Syndrome 0
                    Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 0
                    Stapes Ankylosis with Broad Thumbs and Toes 2
                    Syndactyly Type 6 0
                    Syndactyly-Polydactyly-Earlobe Syndrome 0
                    Timothy syndrome 1
                    Trueb Burg Bottani Syndrome 0
                    Winter Shortland Temple Syndrome 1
                    Zerres Rietschel Majewski Syndrome 0
                    acrocephalosyndactylia + 90
                    brachydactyly-syndactyly syndrome 1
                    cleft lip-palate-ectodermal dysplasia syndrome 1
                    congenital heart defects, hamartomas of tongue, and polysyndactyly 1
                    oculodentodigital dysplasia + 2
                    orofacial cleft 7 + 1
                    popliteal pterygium syndrome + 3
                    sclerosteosis + 2
                    syndactyly type 1 2
                    syndactyly type 3 1
                    syndactyly type 4 2
                    syndactyly type 5 2
                    syndactyly type 8 1
                    syndactyly-telecanthus-anogenital and renal malformations syndrome 1
                    synpolydactyly + 3
                    tarsal-carpal coalition syndrome + 1
                    zygodactyly 1 0
paths to the root