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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: chromosome 2q35 duplication syndrome;   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 Cibar1 CBY1 interacting BAR domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30395363 NCBI chr 5:25,732,457...25,750,953
Ensembl chr 5:25,732,644...25,750,826 		JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Non-syndromic syndactyly ClinVar PMID:15717203 PMID:18485326 PMID:25741868 PMID:28492532 NCBI chr 1:85,485,875...85,493,683
Ensembl chr 1:85,485,289...85,493,685 		JBrowse link
G Fbn2 fibrillin 2 ISO RGD PMID:11285249 RGD:1300320 NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503 		JBrowse link
G Fzd4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chr 1:153,589,471...153,598,376
Ensembl chr 1:153,589,471...153,598,375 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO DNA:insertion:cds: RGD PMID:18984342 RGD:12738203 NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Non-syndromic syndactyly ClinVar PMID:25741868 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO DNA:missense mutation:exon:p.H601R (c.1802A>G) (human)
ClinVar Annotator: match by term: polysyndactyly		 ClinVar PMID:25267529 RGD:12738225 NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036 		JBrowse link
G Hoxd13 homeo box D13 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692 		JBrowse link
G Irf6 interferon regulatory factor 6 ISO popliteal pterygium syndrome, OMIM:119500 RGD PMID:12219090 RGD:1600214 NCBI chr13:111,870,121...111,889,328
Ensembl chr13:111,870,121...111,889,328 		JBrowse link
G Jag2 jagged canonical Notch ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9531541 NCBI chr 6:137,711,144...137,733,331
Ensembl chr 6:137,711,155...137,733,026 		JBrowse link
G Lrp4 LDL receptor related protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16207730 NCBI chr 3:80,362,643...80,416,684
Ensembl chr 3:80,362,858...80,416,679 		JBrowse link
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr18:60,392,376...60,719,720
Ensembl chr18:60,392,376...60,719,720 		JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Non-syndromic syndactyly ClinVar PMID:25741868 NCBI chr 1:85,386,492...85,399,699
Ensembl chr 1:85,386,470...85,399,699 		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 chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449 		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: Craniofacial-skeletal-dermatologic dysplasia
ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly
ClinVar Annotator: match by term: Apert syndrome
ClinVar Annotator: match by term: Saethre-Chotzen syndrome
DNA:missense mutation:cds:p.P253R (human)
DNA:missense mutation:cds:p.A172F (human)
DNA:missense mutations:cds:p.S252W, p.P253R (human)
ClinVar Annotator: match by OMIM:101200
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:		 OMIM
ClinVar
CTD		 PMID:7558045 PMID:7607643 PMID:7655462 PMID:7668257 PMID:7719344 PMID:7719345 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8650126 PMID:8651276 PMID:8696350 PMID:8755573 PMID:8946174 PMID:8957519 PMID:9002682 PMID:9150725 PMID:9462761 PMID:9475591 PMID:9502772 PMID:9677057 PMID:9700203 PMID:9719378 PMID:9973282 PMID:10394936 PMID:10618369 PMID:10851026 PMID:11121055 PMID:11390973 PMID:11781872 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12400058 PMID:12900900 PMID:14499350 PMID:15286168 PMID:15316116 PMID:15389579 PMID:15863034 PMID:15975938 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17264867 PMID:17525745 PMID:17694057 PMID:18552176 PMID:18618990 PMID:18726952 PMID:19186770 PMID:20133659 PMID:20301628 PMID:20489451 PMID:20503384 PMID:20856019 PMID:21367659 PMID:21397175 PMID:22238366 PMID:22558232 PMID:22664175 PMID:23002168 PMID:23431754 PMID:23495007 PMID:23546041 PMID:23786770 PMID:24036790 PMID:24127277 PMID:24486773 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25157968 PMID:25271085 PMID:25425289 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26380986 PMID:26429889 PMID:26467025 PMID:26619011 PMID:27079505 PMID:27683237 PMID:28492532 PMID:31145570, PMID:10735635, PMID:23532954, PMID:17694057, PMID:9677057, PMID:7668257 RGD:12801488, RGD:12801475, RGD:12801474, RGD:12801413, RGD:8547743 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928 		JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO SCS,OMIM:101400;DNA:point mutation:exon:Y103X,Q119P
CTD Direct Evidence: marker/mechanism		 CTD PMID:15923834 PMID:23354436, PMID:8988166 RGD:1624353 NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214 		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 chr 7:126,096,793...126,176,468
Ensembl chr 7:126,096,793...126,176,468 		JBrowse link
brachydactyly-syndactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxd13 homeo box D13 ISO ClinVar Annotator: match by term: Brachydactyly-syndactyly syndrome
ClinVar Annotator: match by term: Brachydactyly-syndactyly-oligodactyly syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:610713		 OMIM
ClinVar
CTD		 PMID:17236141 PMID:23995701 PMID:24239177 PMID:25741868 NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692 		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: Carpenter syndrome ClinVar NCBI chr 9:38,456,487...38,467,120
Ensembl chr 9:38,456,468...38,467,118 		JBrowse link
G Megf8 multiple EGF-like-domains 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:82,184,671...82,234,045
Ensembl chr 1:82,185,034...82,234,045 		JBrowse link
G Rab23 RAB23, member RAS oncogene family ISO ClinVar Annotator: match by term: Carpenter syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:17503333 PMID:21412941 PMID:23599695 PMID:24458945 PMID:25168863 PMID:25741868 PMID:28492532 NCBI chr 9:38,469,784...38,496,185
Ensembl chr 9:38,470,298...38,495,176 		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 9:38,456,487...38,467,120
Ensembl chr 9:38,456,468...38,467,118 		JBrowse link
G Rab23 RAB23, member RAS oncogene family ISO ClinVar Annotator: match by term: Carpenter syndrome 1
ClinVar Annotator: match by OMIM:201000		 OMIM
ClinVar		 PMID:17503333 PMID:20358613 PMID:21412941 PMID:23599695 PMID:24458945 PMID:25741868 PMID:28492532 NCBI chr 9:38,469,784...38,496,185
Ensembl chr 9:38,470,298...38,495,176 		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
ClinVar Annotator: match by OMIM:614976		 OMIM
ClinVar		 PMID:23063620 PMID:25326635 PMID:25741868 PMID:28492532 NCBI chr 1:82,184,671...82,234,045
Ensembl chr 1:82,185,034...82,234,045 		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 Cenani Lenz type
ClinVar Annotator: match by OMIM:212780		 OMIM
ClinVar		 PMID:7891385 PMID:9182770 PMID:9536098 PMID:10756427 PMID:11260233 PMID:12868467 PMID:14577675 PMID:17576681 PMID:18978656 PMID:20381006 PMID:21471202 PMID:24234652 PMID:25119311 PMID:25741868 PMID:26751728 PMID:28492532 PMID:28559208 NCBI chr 3:80,362,643...80,416,684
Ensembl chr 3:80,362,858...80,416,679 		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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:225060		 OMIM
ClinVar
CTD		 PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 PMID:16195396 PMID:16674562 PMID:17089422 PMID:18223281 PMID:19132250 PMID:19715471 PMID:23560673 PMID:24560896 PMID:25741868 PMID:28492532 NCBI chr 8:48,094,233...48,198,499
Ensembl chr 8:48,094,673...48,157,305 		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: Orstavik Lindemann Solberg syndrome
ClinVar Annotator: match by term: Congenital heart defects, hamartomas of tongue, and polysyndactyly		 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:20671153 PMID:25326635 PMID:25427950 PMID:25741868 PMID:27158779 PMID:28289185 PMID:28492532 NCBI chr14:106,393,959...106,759,511
Ensembl chr14:106,393,959...106,759,505 		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
ClinVar Annotator: match by OMIM:613573		 OMIM
ClinVar		 PMID:20691405 PMID:21346770 PMID:24577405 PMID:25529316 PMID:25741868 PMID:28492532 NCBI chr13:89,755,665...89,774,185
Ensembl chr13:89,755,845...89,774,378 		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 ClinVar
OMIM		 PMID:8867657 PMID:15365457 PMID:18553552 PMID:25439729 PMID:25741868 PMID:28492532 NCBI chr 3:121,796,221...121,822,352
Ensembl chr 3:121,796,238...121,822,436 		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 CTD Direct Evidence: marker/mechanism CTD PMID:17163535 NCBI chr14:14,438,392...14,853,016
Ensembl chr14:14,439,082...14,689,554 		JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISS OMIM:219000 MouseDO NCBI chr 5:101,018,009...101,166,794
Ensembl chr 5:101,020,448...101,166,651 		JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17163535 NCBI chr 2:142,747,501...142,885,604
Ensembl chr 2:142,747,501...142,885,604 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISS OMIM:219000 MouseDO NCBI chr 7:64,672,723...64,854,939
Ensembl chr 7:64,672,722...64,864,404 		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 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Fraser syndrome 1
ClinVar Annotator: match by term: Cryptophthalmos syndrome
ClinVar Annotator: match by term: FRASER SYNDROME 1
ClinVar Annotator: match by term: CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME
ClinVar Annotator: match by OMIM:219000		 ClinVar
OMIM		 PMID:12766769 PMID:16894541 PMID:17163535 PMID:18671281 PMID:21900877 PMID:22029163 PMID:23532946 PMID:24476948 PMID:24551978 PMID:24583203 PMID:24700879 PMID:25353622 PMID:25741868 PMID:26893459 PMID:27280866 PMID:27859469 PMID:28492532 PMID:31319225, PMID:12766769 RGD:1598960 NCBI chr14:14,438,392...14,853,016
Ensembl chr14:14,439,082...14,689,554 		JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by OMIM:219000
ClinVar Annotator: match by term: Fraser syndrome 1
ClinVar Annotator: match by term: CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME		 ClinVar PMID:25741868 PMID:26275891 PMID:28492532 NCBI chr 2:142,747,501...142,885,604
Ensembl chr 2:142,747,501...142,885,604 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by OMIM:219000
ClinVar Annotator: match by term: Cryptophthalmos syndrome
ClinVar Annotator: match by term: CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:64,672,723...64,854,939
Ensembl chr 7:64,672,722...64,864,404 		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 IAGP
ISO		 ClinVar Annotator: match by term: FRASER SYNDROME 2 ClinVar
OMIM		 PMID:15838507 PMID:18203166 PMID:18671281 PMID:24115501 PMID:25741868 PMID:26275891 PMID:28492532 PMID:29688405 PMID:30802441, PMID:21756877 RGD:13464328 NCBI chr 2:142,747,501...142,885,604
Ensembl chr 2:142,747,501...142,885,604 		JBrowse link
G Frem2fpl Fras1 related extracellular matrix protein 2;fpl mutant IAGP RGD PMID:21756877 RGD:13464328
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 chr20:30,812,319...30,888,936
Ensembl chr20:30,812,353...30,888,751 		JBrowse link
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr10:58,599,690...58,631,194
Ensembl chr10:58,599,856...58,608,907 		JBrowse link
G Aspa aspartoacylase ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr10:59,839,693...59,888,244
Ensembl chr10:59,839,852...59,892,960 		JBrowse link
G Bclaf1 BCL2-associated transcription factor 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 1:15,799,753...15,828,838
Ensembl chr 1:15,782,477...15,860,624 		JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr10:55,642,070...55,643,924
Ensembl chr10:55,642,070...55,643,923 		JBrowse link
G Gnb5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 8:82,248,951...82,286,493
Ensembl chr 8:82,257,849...82,285,184 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3
ClinVar Annotator: match by term: Fraser syndrome 3		 ClinVar
OMIM		 PMID:21383172 PMID:22510445 PMID:24033266 PMID:25741868 PMID:26539891 PMID:28492532 NCBI chr 7:64,672,723...64,854,939
Ensembl chr 7:64,672,722...64,864,404 		JBrowse link
G Lsm10 LSM10, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 5:144,106,339...144,108,703
Ensembl chr 5:144,106,802...144,108,708 		JBrowse link
G Med23 mediator complex subunit 23 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 1:21,539,765...21,587,675
Ensembl chr 1:21,539,765...21,586,910 		JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 1:53,026,608...53,038,229
Ensembl chr 1:53,026,608...53,038,229 		JBrowse link
G Myo18b myosin XVIIIb ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr12:49,761,100...49,979,745
Ensembl chr12:49,761,120...49,979,758 		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 chr 1:101,904,042...101,932,999
Ensembl chr 1:101,906,903...101,932,998 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar PMID:28492532 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873 		JBrowse link
G Spata22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr10:59,893,064...59,910,769
Ensembl chr10:59,879,850...59,911,051 		JBrowse link
G Tlcd3a TLC domain containing 3A ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr10:64,360,374...64,367,679
Ensembl chr10:64,360,390...64,366,586 		JBrowse link
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr10:62,273,817...62,287,213
Ensembl chr10:62,273,800...62,287,189 		JBrowse link
Greig cephalopolysyndactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
DNA:mutations:exon, intron:multiple
DNA:nonsense mutations, missense mutations, splice-site mutations:exon, intron:multiple
DNA:mutations: :multiple
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:175700		 OMIM
ClinVar
CTD		 PMID:1879832 PMID:6641002 PMID:9302279 PMID:10441342 PMID:10441570 PMID:10678662 PMID:12414818 PMID:12794692 PMID:14608643 PMID:15739154 PMID:15811011 PMID:16740916 PMID:18000979 PMID:18154020 PMID:18241058 PMID:18435847 PMID:19829694 PMID:20583172 PMID:20672375 PMID:24736735 PMID:25606469 PMID:25741868 PMID:26508445 PMID:27231705 PMID:28166811 PMID:28492532, PMID:15739154, PMID:10441342, PMID:24736735, PMID:22903559 RGD:12738222, RGD:12738208, RGD:12738205, RGD:12738141 NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036 		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: Levy-Hollister syndrome
ClinVar Annotator: match by OMIM:149730		 OMIM
ClinVar		 PMID:15654336 PMID:16501574 PMID:16630169 PMID:17213838 PMID:25741868 NCBI chr 2:51,673,480...51,747,533
Ensembl chr 2:51,672,722...51,750,369 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Levy-Hollister syndrome
ClinVar Annotator: match by OMIM:149730		 OMIM
ClinVar		 PMID:7558045 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 PMID:8957519 PMID:9462761 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12124745 PMID:14499350 PMID:15975938 PMID:16158432 PMID:16440883 PMID:16501574 PMID:16838304 PMID:17525745 PMID:18056630 PMID:18414213 PMID:18552176 PMID:20301628 PMID:21367659 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23495007 PMID:23546041 PMID:24127277 PMID:24489893 PMID:25157968 PMID:25271085 PMID:25741868 PMID:25867380 PMID:26380986 PMID:26619011 PMID:28492532 PMID:31145570 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928 		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 Annotator: match by OMIM:149730		 OMIM
ClinVar		 PMID:1908846 PMID:7773297 PMID:8589699 PMID:8858131 PMID:9677066 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11038465 PMID:11055896 PMID:11241532 PMID:11529856 PMID:11879084 PMID:12833394 PMID:15772091 PMID:16501574 PMID:16841094 PMID:17384684 PMID:17875876 PMID:18583390 PMID:18642369 PMID:19381019 PMID:19749790 PMID:25157968 PMID:25606676 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26818779 PMID:28483234 PMID:28492532 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706 		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: Syndactyly type 9 OMIM
ClinVar		 PMID:9783716 PMID:15039974 PMID:25466284 NCBI chr10:63,498,267...63,500,353
Ensembl chr10:63,498,698...63,499,390 		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 DNA:missense mutation:cds:p.P59H (human)
ClinVar Annotator: match by term: Oculodentodigital dysplasia
CTD Direct Evidence: marker/mechanism
DNA:mutation:cd:p.G138R(mouse)
ClinVar Annotator: match by OMIM:164200
DNA:missense mutation: :p.H194P (human)
DNA:missense mutations, duplication:multiple (human)
DNA:missense mutation:cds:p.G60S (mouse)		 ClinVar
CTD
OMIM		 PMID:220941 PMID:1057461 PMID:2309863 PMID:4209752 PMID:7815444 PMID:10331943 PMID:11470490 PMID:12457340 PMID:15108203 PMID:15192806 PMID:15551259 PMID:15637728 PMID:15879313 PMID:16155213 PMID:16211004 PMID:16378922 PMID:16709485 PMID:17256797 PMID:17420259 PMID:17509830 PMID:17687502 PMID:18003637 PMID:18077386 PMID:18079109 PMID:18660473 PMID:18946008 PMID:19057520 PMID:19638688 PMID:19725242 PMID:21215473 PMID:21670345 PMID:22090377 PMID:22179534 PMID:23103513 PMID:23304551 PMID:23465283 PMID:23550541 PMID:25741868 PMID:28492532, PMID:16219735, PMID:18003637, PMID:15637728, PMID:12457340, PMID:16155213 RGD:1578474, RGD:12910132, RGD:8662400, RGD:8662375, RGD:8662372 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089 		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 ClinVar
OMIM		 PMID:2309863 PMID:11470490 PMID:12457340 PMID:14974090 PMID:14981729 PMID:15192806 PMID:15879313 PMID:16531323 PMID:16816024 PMID:17901047 PMID:18003637 PMID:18946008 PMID:19057520 PMID:19338053 PMID:21215473 PMID:21670345 PMID:22090377 PMID:22179534 PMID:23103513 PMID:23304551 PMID:23465283 PMID:23606748 PMID:25388818 PMID:25398053 PMID:25741868 PMID:27226478 PMID:28492532 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089 		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 null ClinVar PMID:10932188 PMID:11559849 NCBI chr 8:48,094,233...48,198,499
Ensembl chr 8:48,094,673...48,157,305 		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: PERIVENTRICULAR NODULAR HETEROTOPIA 7
ClinVar Annotator: match by term: Periventricular nodular heterotopia 7		 ClinVar
OMIM		 PMID:25741868 PMID:27694961 PMID:32238909 NCBI chr18:60,392,376...60,719,720
Ensembl chr18:60,392,376...60,719,720 		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: Pfeiffer syndrome OMIM
ClinVar		 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 PMID:14564217 PMID:14613973 PMID:16957473 PMID:24127277 PMID:24497711 PMID:25251565 PMID:28492532 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Pfeiffer syndrome
ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5
ClinVar Annotator: match by term: ACS V		 OMIM
ClinVar		 PMID:7558045 PMID:7581378 PMID:7607643 PMID:7655462 PMID:7719333 PMID:7719344 PMID:7719345 PMID:7773284 PMID:7795583 PMID:7874170 PMID:7987400 PMID:8434615 PMID:8528214 PMID:8644708 PMID:8650126 PMID:8651276 PMID:8755573 PMID:8946174 PMID:8957519 PMID:8958319 PMID:9150725 PMID:9385368 PMID:9462761 PMID:9475591 PMID:9586546 PMID:9605588 PMID:9700203 PMID:9714439 PMID:9719378 PMID:10076886 PMID:10076887 PMID:10394936 PMID:10406670 PMID:10541159 PMID:10633130 PMID:10851026 PMID:10874645 PMID:10945669 PMID:11121055 PMID:11325814 PMID:11390973 PMID:11781872 PMID:11807866 PMID:12124745 PMID:12400058 PMID:12884424 PMID:12884434 PMID:14499350 PMID:15282208 PMID:15286168 PMID:15316116 PMID:15523615 PMID:15975938 PMID:15996217 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16838304 PMID:17525745 PMID:17803937 PMID:18391498 PMID:18552176 PMID:18618990 PMID:19066959 PMID:20133659 PMID:20301628 PMID:20503384 PMID:21367659 PMID:22238366 PMID:22558232 PMID:22664175 PMID:23002168 PMID:23348274 PMID:23431754 PMID:23495007 PMID:23546041 PMID:23786770 PMID:23908597 PMID:24036790 PMID:24127277 PMID:24489893 PMID:24656465 PMID:25157968 PMID:25271085 PMID:25361936 PMID:25741868 PMID:25759925 PMID:25759927 PMID:25867380 PMID:26289989 PMID:26362256 PMID:26380986 PMID:26619011 PMID:27028366 PMID:27481450 PMID:27683237 PMID:27803855 PMID:28492532 PMID:31145570 PMID:270283566 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928 		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: Popliteal pterygium syndrome
ClinVar Annotator: match by OMIM:119500		 OMIM
ClinVar		 PMID:12219090 PMID:14757865 PMID:18478600 PMID:18617879 PMID:19036739 PMID:20803643 PMID:22488974 PMID:24936515 PMID:25547932 PMID:25548624 PMID:25691407 PMID:28492532 PMID:29453417 NCBI chr13:111,870,121...111,889,328
Ensembl chr13:111,870,121...111,889,328 		JBrowse link
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO
ISS		 ClinVar Annotator: match by term: Popliteal pterygium syndrome
OMIM:119500 | OMIM:263650		 ClinVar
MouseDO		 NCBI chr11:38,251,991...38,274,234
Ensembl chr11:38,251,955...38,274,217 		JBrowse link
Popliteal Pterygium Syndrome, Lethal Type 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
ClinVar Annotator: match by term: Popliteal pterygium syndrome lethal type
ClinVar Annotator: match by OMIM:263650		 OMIM
ClinVar		 PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 PMID:23610050 PMID:25326635 PMID:25741868 PMID:26752647 PMID:28492532 PMID:28940926 NCBI chr11:38,251,991...38,274,234
Ensembl chr11:38,251,955...38,274,217 		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: Robinow-Sorauf syndrome
ClinVar Annotator: match by OMIM:180750		 OMIM
ClinVar		 PMID:1240778 PMID:10465122 PMID:12791045 PMID:16251895 PMID:18391498 PMID:25741868 PMID:28492532 NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214 		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: Saethre-Chotzen syndrome
ClinVar Annotator: match by term: ACS III		 ClinVar
OMIM		 PMID:7558045 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 PMID:8957519 PMID:9462761 PMID:9585583 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:11781872 PMID:12124745 PMID:14499350 PMID:15975938 PMID:16158432 PMID:16440883 PMID:16838304 PMID:17264867 PMID:17525745 PMID:18552176 PMID:20301628 PMID:21367659 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23495007 PMID:23546041 PMID:24127277 PMID:24489893 PMID:24728327 PMID:25157968 PMID:25271085 PMID:25425289 PMID:25741868 PMID:25867380 PMID:26380986 PMID:26429889 PMID:26467025 PMID:26619011 PMID:28492532 PMID:31145570 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928 		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 PMID:9279764 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9843059 PMID:9950359 PMID:10094188 PMID:10861678 PMID:11424131 PMID:11746040 PMID:14613973 PMID:15241680 PMID:15915095 PMID:17552943 PMID:19215249 PMID:22016144 PMID:22622662 PMID:24728327 PMID:25741868 PMID:26740388 PMID:28492532 PMID:32238909 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706 		JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Saethre-Chotzen syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 PMID:9934984 PMID:10649491 PMID:11248247 PMID:11474656 PMID:11754069 PMID:11977182 PMID:18391498 PMID:19373776 PMID:20643727 PMID:24127277 PMID:25271085 PMID:25741868 PMID:25741869 PMID:28492532 PMID:31837199 NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214 		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 chr 3:80,362,643...80,416,684
Ensembl chr 3:80,362,858...80,416,679 		JBrowse link
G Sost sclerostin ISO DNA:transition: :69C>T (human)
CTD Direct Evidence: marker/mechanism		 CTD PMID:11179006 RGD:68858 NCBI chr10:89,897,087...89,900,131
Ensembl chr10:89,897,087...89,900,131 		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: Sclerosteosis 1 ClinVar
OMIM		 PMID:9712543 PMID:11179006 PMID:11181578 PMID:28492532 NCBI chr10:89,897,087...89,900,131
Ensembl chr10:89,897,087...89,900,131 		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
ClinVar Annotator: match by OMIM:614305		 OMIM
ClinVar		 PMID:7891385 PMID:11385236 PMID:21471202 PMID:24234652 PMID:28492532 NCBI chr 3:80,362,643...80,416,684
Ensembl chr 3:80,362,858...80,416,679 		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 chr10:76,901,681...77,210,042
Ensembl chr10:76,903,325...76,930,631 		JBrowse link
G Nog noggin ISO ClinVar Annotator: match by term: STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES ClinVar
OMIM		 PMID:9851982 PMID:10069712 PMID:11160400 PMID:11857750 PMID:12089654 PMID:17668388 PMID:18440889 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386 		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 chr 9:82,208,223...82,214,440
Ensembl chr 9:82,208,223...82,214,440 		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
ClinVar Annotator: match by OMIM:186100		 OMIM
ClinVar		 PMID:2157843 PMID:11470490 PMID:14729836 PMID:15192806 PMID:18079109 PMID:21215473 PMID:22090377 PMID:22179534 PMID:23103513 PMID:23304551 PMID:23465283 PMID:25741868 PMID:28492532 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089 		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 null OMIM
ClinVar		 PMID:1849351 PMID:18417549 PMID:19847792 NCBI chr 4:2,116,094...2,274,111
Ensembl chr 4:2,116,094...2,201,749 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691 		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 V ClinVar NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089 		JBrowse link
G Hoxd13 homeo box D13 ISO ClinVar Annotator: match by term: Syndactyly, type V
DNA:missense mutation:exon:p.Q317R (c.950A>G)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:186300		 OMIM
ClinVar
CTD		 PMID:9207113 PMID:15333588 PMID:16222680 PMID:17236141 PMID:24239177 PMID:25741868, PMID:17236141 RGD:12738470 NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692 		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: Metacarpal 4-5 fusion OMIM
ClinVar		 PMID:23709756 PMID:24878828 NCBI chr  X:76,786,728...76,796,311
Ensembl chr  X:76,786,466...76,797,069 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:300707		 OMIM
CTD
ClinVar		 PMID:8818947 PMID:18297069 NCBI chr10:66,019,519...66,020,682
Ensembl chr10:66,019,520...66,020,682 		JBrowse link
synpolydactyly 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 ClinVar PMID:29514872 NCBI chr 7:26,641,856...26,890,503
Ensembl chr 7:26,645,422...26,859,716 		JBrowse link
G Fbln1 fibulin 1 ISS OMIM:186000 | OMIM:608180 | OMIM:610234 MouseDO NCBI chr 7:126,096,793...126,176,468
Ensembl chr 7:126,096,793...126,176,468 		JBrowse link
G Hoxd13 homeo box D13 ISS OMIM:186000 | OMIM:608180 | OMIM:610234 MouseDO NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692 		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 1 ClinVar PMID:29514872 NCBI chr 7:26,641,856...26,890,503
Ensembl chr 7:26,645,422...26,859,716 		JBrowse link
G Hoxd13 homeo box D13 severity ISO DNA:duplication:CDS
ClinVar Annotator: match by term: Synpolydactyly 1
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation:exon:p.R186X (c.556C¿¿¿>¿¿¿T) (human)
DNA:insertion:exon
DNA:missense mutation:exon:p.R298Q (c.893G>A) (human)
DNA:missense mutation:exon:p.I314L (940A>C) (human)
DNA:splice-site mutation:intron:c.781+1G>A (human)
DNA:nonsense mutation:exon:p.Q248X (c.742C>T) (human)
DNA:missense mutation:exon:p.G220A (c.659G>C) (human)
ClinVar Annotator: match by OMIM:186000		 ClinVar
OMIM
CTD		 PMID:7666393 PMID:8620844 PMID:8817328 PMID:9207113 PMID:9758628 PMID:12414828 PMID:12900906 PMID:14698619 PMID:15333588 PMID:15917204 PMID:16222680 PMID:18399101 PMID:19060004 PMID:21814222 PMID:22373878 PMID:22374128 PMID:23948678 PMID:24055421 PMID:24239177 PMID:24789103 PMID:25741868, PMID:8817328, PMID:27254532, PMID:9207113, PMID:22374128, PMID:12620993, PMID:24055421, PMID:21814222, PMID:11543619, PMID:15952114, PMID:23948678 RGD:1599534, RGD:12743595, RGD:12743592, RGD:11098998, RGD:12738399, RGD:11098055, RGD:11098032, RGD:12738377, RGD:12738375, RGD:11098288 NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692 		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 2 OMIM
ClinVar		 PMID:25741868 NCBI chr 7:126,096,793...126,176,468
Ensembl chr 7:126,096,793...126,176,468 		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
DNA:missense mutation:cds:c.682T>G (p.C228G)(human)
ClinVar Annotator: match by OMIM:186570		 OMIM
ClinVar		 PMID:4019538 PMID:7557985 PMID:10080184 PMID:11545688 PMID:17245852 PMID:25741868, PMID:26211601 RGD:12801450 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386 		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 DNA:missense mutations:exon:p.G406R, p.G402S (human)
ClinVar Annotator: match by term: Timothy syndrome
ClinVar Annotator: match by term: Long QT syndrome 8
ClinVar Annotator: match by OMIM:601005
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:15454078 PMID:15863612 PMID:17224476 PMID:18250309 PMID:19074970 PMID:20817017 PMID:21307850 PMID:21685391 PMID:21878566 PMID:21910241 PMID:22106044 PMID:22581653 PMID:23174487 PMID:23414114 PMID:23578275 PMID:23580742 PMID:23631430 PMID:23677916 PMID:23690510 PMID:23861362 PMID:24033266 PMID:24183960 PMID:24690944 PMID:24728418 PMID:25184293 PMID:25333069 PMID:25633834 PMID:25691416 PMID:25741868 PMID:25974115 PMID:26227324 PMID:26230511 PMID:26386135 PMID:26822303 PMID:27218670 PMID:27231019 PMID:27502440 PMID:27711072 PMID:27930701 PMID:28166811 PMID:28341588 PMID:28492532 PMID:28600387 PMID:28616568 PMID:29016939 PMID:29046645 PMID:29071820 PMID:30279520 PMID:30345660 PMID:31539150, PMID:15863612 RGD:1580173 NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913 		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 OMIM
ClinVar		 PMID:3144990 PMID:7606318 PMID:16531740 PMID:18798318 PMID:24728327 PMID:25741868 PMID:27236920 NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    syndrome 7575
      chromosomal duplication syndrome 749
        syndactyly 60
          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 1
          Fraser syndrome + 21
          Frints De Smet Fabry Fryns Syndrome 0
          Gollop Coates Syndrome 0
          Grange Syndrome 0
          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 + 8
          brachydactyly-syndactyly syndrome 1
          cleft lip-palate-ectodermal dysplasia syndrome 1
          congenital heart defects, hamartomas of tongue, and polysyndactyly 1
          oculodentodigital dysplasia + 1
          orofacial cleft 7 + 1
          popliteal pterygium syndrome + 2
          sclerosteosis + 2
          syndactyly type 1 1
          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 16918
    disease of anatomical entity 16286
      musculoskeletal system disease 6244
        connective tissue disease 4355
          bone disease 3040
            bone development disease 1371
              dysostosis 381
                synostosis 229
                  syndactyly 60
                    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 1
                    Fraser syndrome + 21
                    Frints De Smet Fabry Fryns Syndrome 0
                    Gollop Coates Syndrome 0
                    Grange Syndrome 0
                    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 + 8
                    brachydactyly-syndactyly syndrome 1
                    cleft lip-palate-ectodermal dysplasia syndrome 1
                    congenital heart defects, hamartomas of tongue, and polysyndactyly 1
                    oculodentodigital dysplasia + 1
                    orofacial cleft 7 + 1
                    popliteal pterygium syndrome + 2
                    sclerosteosis + 2
                    syndactyly type 1 1
                    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