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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.

GViewer not supported for the selected species.

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 chrNW_004936549:5,069,164...5,109,299
Ensembl chrNW_004936549:5,068,656...5,111,406 		JBrowse link
G Cdh20 cadherin 20 ISO ClinVar Annotator: match by term: Non-syndromic syndactyly ClinVar PMID:25741868 NCBI chrNW_004936497:3,626,181...3,827,024
Ensembl chrNW_004936497:3,625,601...3,699,564 		JBrowse link
G Cibar1 CBY1 interacting BAR domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30395363 NCBI chrNW_004936544:6,848,026...6,868,522
Ensembl chrNW_004936544:6,848,221...6,868,088 		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 chrNW_004936727:1,857,596...1,862,551
Ensembl chrNW_004936727:1,857,596...1,862,002 		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 chrNW_004936661:2,322,531...2,330,150
Ensembl chrNW_004936661:2,322,531...2,329,953 		JBrowse link
G Fbn2 fibrillin 2 ISO RGD PMID:11285249 RGD:1300320 NCBI chrNW_004936504:1,535,629...1,757,386
Ensembl chrNW_004936504:1,535,624...1,757,435 		JBrowse link
G Fzd4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chrNW_004936498:14,657,641...14,666,853
Ensembl chrNW_004936498:14,662,659...14,666,883 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO DNA:insertion:cds: RGD PMID:18984342 RGD:12738203 NCBI chrNW_004936561:5,343,038...5,347,721
Ensembl chrNW_004936561:5,343,038...5,347,721 		JBrowse link
G Gja1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Syndactyly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936658:3,920,043...3,932,987
Ensembl chrNW_004936658:3,920,043...3,932,987 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: polysyndactyly ClinVar NCBI chrNW_004936478:17,129,922...17,403,630
Ensembl chrNW_004936478:17,126,911...17,403,011 		JBrowse link
G Hoxd13 homeobox D13 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936509:5,579,846...5,581,651
Ensembl chrNW_004936509:5,579,843...5,581,651 		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 chrNW_004936557:3,292,927...3,309,002
Ensembl chrNW_004936557:3,292,873...3,311,369 		JBrowse link
G Jag2 jagged canonical Notch ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9531541 NCBI chrNW_004936621:363,489...380,616
Ensembl chrNW_004936621:366,616...380,618 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: Non-syndromic syndactyly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936469:10,245,001...10,438,933
Ensembl chrNW_004936469:10,244,881...10,438,935 		JBrowse link
G Lrp4 LDL receptor related protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16207730 NCBI chrNW_004936562:2,211,519...2,262,899
Ensembl chrNW_004936562:2,211,514...2,263,937 		JBrowse link
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chrNW_004936497:6,106,284...6,318,339
Ensembl chrNW_004936497:6,106,268...6,318,354 		JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Syndactyly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936661:2,257,097...2,268,301
Ensembl chrNW_004936661:2,257,068...2,268,716 		JBrowse link
G Rab19 RAB19, member RAS oncogene family ISO ClinVar Annotator: match by term: Non-syndromic syndactyly ClinVar PMID:25741868 NCBI chrNW_004936592:4,505,882...4,509,288 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 chrNW_004936710:1,760,365...1,815,269
Ensembl chrNW_004936710:1,760,089...1,815,508 		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 chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019 		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 chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296 		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 chrNW_004936546:5,331,220...5,332,669
Ensembl chrNW_004936546:5,331,863...5,332,555 		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 chrNW_004936629:4,170,186...4,242,100
Ensembl chrNW_004936629:4,170,817...4,242,103 		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 chrNW_004936500:2,017,519...2,038,777
Ensembl chrNW_004936500:2,017,518...2,039,108 		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 chrNW_004936636:33,933...78,990
Ensembl chrNW_004936636:33,673...79,194 		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 chrNW_004936509:5,579,846...5,581,651
Ensembl chrNW_004936509:5,579,843...5,581,651 		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 chrNW_004936476:4,131,159...4,142,357
Ensembl chrNW_004936476:4,129,013...4,142,357 		JBrowse link
G Megf8 multiple EGF like domains 8 ISO ClinVar Annotator: match by term: Carpenter syndrome ClinVar NCBI chrNW_004936706:157,167...198,071
Ensembl chrNW_004936706:157,019...197,500 		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 chrNW_004936476:4,095,829...4,127,714
Ensembl chrNW_004936476:4,095,329...4,127,701 		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 chrNW_004936476:4,131,159...4,142,357
Ensembl chrNW_004936476:4,129,013...4,142,357 		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 chrNW_004936476:4,095,829...4,127,714
Ensembl chrNW_004936476:4,095,329...4,127,701 		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 chrNW_004936661:3,024,581...3,029,867
Ensembl chrNW_004936661:3,024,984...3,029,158 		JBrowse link
G Akt2 AKT serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,652,568...2,694,039
Ensembl chrNW_004936661:2,652,566...2,694,086 		JBrowse link
G Arhgef1 Rho guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:540,987...558,792
Ensembl chrNW_004936706:540,748...558,823 		JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:476,473...494,659
Ensembl chrNW_004936706:477,107...495,525 		JBrowse link
G Axl AXL receptor tyrosine kinase ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:3,658,140...3,687,290
Ensembl chrNW_004936661:3,657,831...3,687,816 		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 chrNW_004936661:3,817,791...3,819,854
Ensembl chrNW_004936661:3,818,120...3,819,307 		JBrowse link
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:3,759,031...3,765,361
Ensembl chrNW_004936661:3,758,909...3,765,513 		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 chrNW_004936661:3,799,998...3,817,560
Ensembl chrNW_004936661:3,799,955...3,819,851 		JBrowse link
G Blvrb biliverdin reductase B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,808,998...2,818,123
Ensembl chrNW_004936661:2,808,950...2,818,178 		JBrowse link
G Ccdc97 coiled-coil domain containing 97 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:3,724,943...3,736,936
Ensembl chrNW_004936661:3,725,591...3,736,877 		JBrowse link
G Ccnp cyclin P ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,643,546...2,648,600 JBrowse link
G Cd79a CD79a molecule ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:561,195...564,577
Ensembl chrNW_004936706:561,140...564,661 		JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:216,394...243,361
Ensembl chrNW_004936706:212,833...242,756 		JBrowse link
G Cnfn cornifelin ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:149,643...151,088
Ensembl chrNW_004936706:149,643...151,088 		JBrowse link
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,989,164...3,008,955
Ensembl chrNW_004936661:2,989,162...3,006,289 		JBrowse link
G CUNH19orf47 chromosome unknown C19orf47 homolog ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,719,382...2,741,373
Ensembl chrNW_004936661:2,719,387...2,741,373 		JBrowse link
G Dedd2 death effector domain containing 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:285,874...302,910
Ensembl chrNW_004936706:285,820...305,869 		JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,322,531...2,330,150
Ensembl chrNW_004936661:2,322,531...2,329,953 		JBrowse link
G Dmac2 distal membrane arm assembly component 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:3,824,379...3,826,411 JBrowse link
G Dmrtc2 DMRT like family C2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:582,541...586,735
Ensembl chrNW_004936706:582,541...586,715 		JBrowse link
G Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,436,702...2,444,758
Ensembl chrNW_004936661:2,433,483...2,444,752 		JBrowse link
G Egln2 egl-9 family hypoxia inducible factor 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:3,061,391...3,070,219
Ensembl chrNW_004936661:3,061,308...3,070,192 		JBrowse link
G Eid2 EP300 interacting inhibitor of differentiation 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,364,179...2,366,739
Ensembl chrNW_004936661:2,365,861...2,366,586 		JBrowse link
G Eid2b EP300 interacting inhibitor of differentiation 2B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,352,726...2,354,968
Ensembl chrNW_004936661:2,354,497...2,354,966 		JBrowse link
G Erf ETS2 repressor factor ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:255,479...263,154
Ensembl chrNW_004936706:255,407...263,179 		JBrowse link
G Erich4 glutamate rich 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:3,829,881...3,834,379
Ensembl chrNW_004936661:3,829,577...3,834,487 		JBrowse link
G Exosc5 exosome component 5 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:3,790,283...3,799,602
Ensembl chrNW_004936661:3,790,302...3,799,660 		JBrowse link
G Fbl fibrillarin ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,444,985...2,455,423
Ensembl chrNW_004936661:2,444,866...2,455,528 		JBrowse link
G Fcgbp Fc gamma binding protein ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,458,960...2,494,793 JBrowse link
G Grik5 glutamate ionotropic receptor kainate type subunit 5 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:410,806...469,000
Ensembl chrNW_004936706:410,938...464,714 		JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:266,462...277,256
Ensembl chrNW_004936706:269,126...277,256 		JBrowse link
G Hipk4 homeodomain interacting protein kinase 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,764,661...2,770,110
Ensembl chrNW_004936661:2,764,661...2,770,110 		JBrowse link
G Hnrnpul1 heterogeneous nuclear ribonucleoprotein U like 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:3,688,328...3,723,405
Ensembl chrNW_004936661:3,690,137...3,723,391 		JBrowse link
G Itpkc inositol-trisphosphate 3-kinase C ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:3,006,506...3,023,355
Ensembl chrNW_004936661:3,006,505...3,022,823 		JBrowse link
G Leutx leucine twenty homeobox ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,399,154...2,406,044 JBrowse link
G Lipe lipase E, hormone sensitive type ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:122,939...139,506
Ensembl chrNW_004936706:128,133...141,276 		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 chrNW_004936661:2,919,444...2,945,847
Ensembl chrNW_004936661:2,919,550...2,945,599 		JBrowse link
G Lypd4 LY6/PLAUR domain containing 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:591,128...593,307 JBrowse link
G Map3k10 mitogen-activated protein kinase kinase kinase 10 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,623,356...2,638,218 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 chrNW_004936706:157,167...198,071
Ensembl chrNW_004936706:157,019...197,500 		JBrowse link
G Mia MIA SH3 domain containing ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:3,047,735...3,049,050
Ensembl chrNW_004936661:3,047,747...3,049,064 		JBrowse link
G Numbl NUMB like endocytic adaptor protein ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,962,741...2,984,763
Ensembl chrNW_004936661:2,963,510...2,984,740 		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 chrNW_004936706:212,635...215,498
Ensembl chrNW_004936706:212,096...215,497 		JBrowse link
G Pld3 phospholipase D family member 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,741,523...2,763,945
Ensembl chrNW_004936661:2,741,234...2,767,121 		JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,257,097...2,268,301
Ensembl chrNW_004936661:2,257,068...2,268,716 		JBrowse link
G Pou2f2 POU class 2 homeobox 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:335,613...393,854
Ensembl chrNW_004936706:320,539...392,414 		JBrowse link
G Prr19 proline rich 19 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:209,013...210,326
Ensembl chrNW_004936706:209,083...210,247 		JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,772,446...2,783,120
Ensembl chrNW_004936661:2,772,621...2,787,647 		JBrowse link
G Psmc4 proteasome 26S subunit, ATPase 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,522,665...2,528,279
Ensembl chrNW_004936661:2,522,615...2,528,284 		JBrowse link
G Rab4b RAB4B, member RAS oncogene family ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:3,049,802...3,059,921
Ensembl chrNW_004936661:3,049,638...3,059,963 		JBrowse link
G Rabac1 Rab acceptor 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:498,271...500,847
Ensembl chrNW_004936706:497,963...500,842 		JBrowse link
G Rps16 ribosomal protein S16 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,271,747...2,274,769
Ensembl chrNW_004936661:2,271,396...2,274,965 		JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:568,443...575,973
Ensembl chrNW_004936706:568,364...575,126 		JBrowse link
G Selenov selenoprotein V ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,335,170...2,338,422 JBrowse link
G Sertad1 SERTA domain containing 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,792,501...2,793,901
Ensembl chrNW_004936661:2,792,850...2,793,590 		JBrowse link
G Sertad3 SERTA domain containing 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,801,975...2,806,095 JBrowse link
G Shkbp1 SH3KBP1 binding protein 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,903,986...2,915,908
Ensembl chrNW_004936661:2,903,938...2,915,910 		JBrowse link
G Snrpa small nuclear ribonucleoprotein polypeptide A ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:3,030,104...3,041,877
Ensembl chrNW_004936661:3,029,802...3,041,877 		JBrowse link
G Sptbn4 spectrin beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,831,132...2,903,619
Ensembl chrNW_004936661:2,827,572...2,903,655 		JBrowse link
G Supt5h SPT5 homolog, DSIF elongation factor subunit ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,280,390...2,308,085
Ensembl chrNW_004936661:2,280,285...2,308,780 		JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272 		JBrowse link
G Timm50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,310,169...2,318,035
Ensembl chrNW_004936661:2,310,125...2,318,258 		JBrowse link
G Tmem145 transmembrane protein 145 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:198,105...206,794
Ensembl chrNW_004936706:198,339...206,739 		JBrowse link
G Tmem91 transmembrane protein 91 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:3,784,545...3,788,434
Ensembl chrNW_004936661:3,783,709...3,788,244 		JBrowse link
G Ttc9b tetratricopeptide repeat domain 9B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,638,394...2,640,785
Ensembl chrNW_004936661:2,637,189...2,640,725 		JBrowse link
G Znf526 zinc finger protein 526 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:278,730...284,232
Ensembl chrNW_004936706:280,075...282,078 		JBrowse link
G Znf546 zinc finger protein 546 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,545,011...2,564,695
Ensembl chrNW_004936661:2,544,960...2,567,691 		JBrowse link
G Znf574 zinc finger protein 574 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:401,188...406,481
Ensembl chrNW_004936706:401,447...404,140 		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 chrNW_004936562:2,211,519...2,262,899
Ensembl chrNW_004936562:2,211,514...2,263,937 		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 chrNW_004936542:4,501,081...4,602,338
Ensembl chrNW_004936542:4,539,931...4,602,344 		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 chrNW_004936491:8,238,644...8,749,172
Ensembl chrNW_004936491:8,239,284...8,485,636 		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 chrNW_004936903:381,383...398,339
Ensembl chrNW_004936903:381,424...398,350 		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 chrNW_004936783:1,175,044...1,194,407
Ensembl chrNW_004936783:1,173,627...1,193,813 		JBrowse link
G Nt5dc4 5'-nucleotidase domain containing 4 ISO ClinVar Annotator: match by term: Filippi syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936783:1,162,977...1,170,876 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 chrNW_004936676:1,870,856...2,138,832
Ensembl chrNW_004936676:1,870,814...2,135,823 		JBrowse link
G Frem1 FRAS1 related extracellular matrix 1 ISO OMIM:219000 MouseDO NCBI chrNW_004936539:8,338,624...8,508,031
Ensembl chrNW_004936539:8,351,159...8,508,069 		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 chrNW_004936565:6,671,578...6,837,514
Ensembl chrNW_004936565:6,671,737...6,837,514 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO OMIM:219000 MouseDO NCBI chrNW_004936545:4,353,056...4,606,196
Ensembl chrNW_004936545:4,353,040...5,002,725 		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 chrNW_004936676:1,870,856...2,138,832
Ensembl chrNW_004936676:1,870,814...2,135,823 		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 chrNW_004936565:6,671,578...6,837,514
Ensembl chrNW_004936565:6,671,737...6,837,514 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by term: Fraser syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936545:4,353,056...4,606,196
Ensembl chrNW_004936545:4,353,040...5,002,725 		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 chrNW_004936565:6,671,578...6,837,514
Ensembl chrNW_004936565:6,671,737...6,837,514 		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 chrNW_004936521:7,951,176...8,025,666
Ensembl chrNW_004936521:7,952,365...8,025,614 		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 chrNW_004936677:1,539,502...1,548,343
Ensembl chrNW_004936677:1,538,874...1,548,010 		JBrowse link
G Aspa aspartoacylase ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936677:219,459...232,545 JBrowse link
G Bclaf1 BCL2 associated transcription factor 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chrNW_004936560:3,681,145...3,711,831
Ensembl chrNW_004936560:3,680,657...3,712,004 		JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chrNW_004936595:1,417,718...1,420,480
Ensembl chrNW_004936595:1,418,435...1,419,511 		JBrowse link
G Gnb5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chrNW_004936471:13,952,462...14,001,663
Ensembl chrNW_004936471:13,955,991...13,997,073 		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 chrNW_004936545:4,353,056...4,606,196
Ensembl chrNW_004936545:4,353,040...5,002,725 		JBrowse link
G Lsm10 LSM10, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chrNW_004936474:18,822,317...18,825,158
Ensembl chrNW_004936474:18,822,327...18,825,114 		JBrowse link
G Med23 mediator complex subunit 23 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chrNW_004937067:14...41,438
Ensembl chrNW_004937067:849...41,298 		JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chrNW_004936489:16,179,321...16,181,991
Ensembl chrNW_004936489:16,179,810...16,184,020 		JBrowse link
G Myo18b myosin XVIIIB ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936657:551,535...764,247 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 chrNW_004936664:2,439,434...2,464,878
Ensembl chrNW_004936664:2,439,426...2,465,094 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936626:4,241,993...4,301,919
Ensembl chrNW_004936626:4,241,908...4,309,476 		JBrowse link
G Spata22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936677:167,324...197,860
Ensembl chrNW_004936677:167,324...196,188 		JBrowse link
G Tlcd3a TLC domain containing 3A ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chrNW_004936538:7,038,799...7,049,428
Ensembl chrNW_004936538:7,041,973...7,049,432 		JBrowse link
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chrNW_004936538:7,856,263...7,868,249
Ensembl chrNW_004936538:7,856,185...7,868,259 		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 chrNW_004936478:15,296,055...15,387,749
Ensembl chrNW_004936478:15,296,055...15,388,309 		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 chrNW_004936478:17,129,922...17,403,630
Ensembl chrNW_004936478:17,126,911...17,403,011 		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 chrNW_004936478:16,878,725...16,884,065 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 chrNW_004936478:15,421,612...15,423,894
Ensembl chrNW_004936478:15,420,463...15,423,946 		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 chrNW_004936478:15,167,651...15,186,594
Ensembl chrNW_004936478:15,167,751...15,186,633 		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 chrNW_004936478:15,424,010...16,102,401
Ensembl chrNW_004936478:15,424,041...16,102,024 		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 chrNW_004936480:18,114,231...18,195,884
Ensembl chrNW_004936480:18,114,204...18,195,898 		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 chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019 		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 chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296 		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 chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296 		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 chrNW_004936480:18,114,231...18,195,884
Ensembl chrNW_004936480:18,114,204...18,195,898 		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 chrNW_004936480:18,114,231...18,195,884
Ensembl chrNW_004936480:18,114,204...18,195,898 		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 chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019 		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 chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296 		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 chrNW_004936538:6,558,044...6,559,193 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 chrNW_004936658:3,920,043...3,932,987
Ensembl chrNW_004936658:3,920,043...3,932,987 		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 chrNW_004936658:3,920,043...3,932,987
Ensembl chrNW_004936658:3,920,043...3,932,987 		JBrowse link
G Tbc1d32 TBC1 domain family member 32 ISO ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004936658:3,632,314...3,814,134
Ensembl chrNW_004936658:3,632,536...3,812,805 		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 chrNW_004936542:4,501,081...4,602,338
Ensembl chrNW_004936542:4,539,931...4,602,344 		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 chrNW_004936497:6,106,284...6,318,339
Ensembl chrNW_004936497:6,106,268...6,318,354 		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 chrNW_004936710:1,760,365...1,815,269
Ensembl chrNW_004936710:1,760,089...1,815,508 		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 chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019 		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 chrNW_004936557:3,292,927...3,309,002
Ensembl chrNW_004936557:3,292,873...3,311,369 		JBrowse link
G Ripk4 receptor interacting serine/threonine kinase 4 ISO ClinVar Annotator: match by term: Popliteal pterygium syndrome ClinVar NCBI chrNW_004936500:2,017,519...2,038,777
Ensembl chrNW_004936500:2,017,518...2,039,108 		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 chrNW_004936546:5,331,220...5,332,669
Ensembl chrNW_004936546:5,331,863...5,332,555 		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 chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019 		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 chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296 		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 chrNW_004936546:5,331,220...5,332,669
Ensembl chrNW_004936546:5,331,863...5,332,555 		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 chrNW_004936562:2,211,519...2,262,899
Ensembl chrNW_004936562:2,211,514...2,263,937 		JBrowse link
G Sost sclerostin ISO DNA:transition: :69C>T (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:11179006 RGD:68858 NCBI chrNW_004936541:313,308...318,109
Ensembl chrNW_004936541:313,287...318,176 		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 chrNW_004936541:313,308...318,109
Ensembl chrNW_004936541:313,287...318,176 		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 chrNW_004936562:2,211,519...2,262,899
Ensembl chrNW_004936562:2,211,514...2,263,937 		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 chrNW_004936490:6,341,849...6,494,377
Ensembl chrNW_004936490:6,371,204...6,632,690 		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 chrNW_004936490:6,262,651...6,264,069
Ensembl chrNW_004936490:6,262,785...6,263,483 		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 chrNW_004936569:1,474,693...1,480,562
Ensembl chrNW_004936569:1,474,665...1,480,568 		JBrowse link
G Nhej1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: Syndactyly type 1 ClinVar NCBI chrNW_004936569:1,494,783...1,578,587
Ensembl chrNW_004936569:1,495,446...1,578,590 		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 chrNW_004936658:3,920,043...3,932,987
Ensembl chrNW_004936658:3,920,043...3,932,987 		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 chrNW_004936797:745,851...873,388
Ensembl chrNW_004936797:745,845...868,632 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chrNW_004936527:10,033,095...10,042,713
Ensembl chrNW_004936527:10,033,299...10,042,599 		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 chrNW_004936658:3,920,043...3,932,987
Ensembl chrNW_004936658:3,920,043...3,932,987 		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 chrNW_004936509:5,579,846...5,581,651
Ensembl chrNW_004936509:5,579,843...5,581,651 		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 chrNW_004936683:2,454,067...2,463,653
Ensembl chrNW_004936683:2,454,067...2,463,635 		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 chrNW_004936809:471,619...482,296
Ensembl chrNW_004936809:472,061...482,192 		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 chrNW_004936509:5,579,846...5,581,651
Ensembl chrNW_004936509:5,579,843...5,581,651 		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 chrNW_004936492:9,886,269...10,092,725
Ensembl chrNW_004936492:9,886,254...10,092,221 		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 chrNW_004936509:5,579,846...5,581,651
Ensembl chrNW_004936509:5,579,843...5,581,651 		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 chrNW_004936629:4,170,186...4,242,100
Ensembl chrNW_004936629:4,170,817...4,242,103 		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 chrNW_004936490:6,262,651...6,264,069
Ensembl chrNW_004936490:6,262,785...6,263,483 		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 chrNW_004936606:2,168,104...2,867,560
Ensembl chrNW_004936606:2,168,625...2,865,758 		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 chrNW_004936579:5,893,064...5,917,021
Ensembl chrNW_004936579:5,892,542...5,917,281 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      bone development disease 2182
        dysostosis 543
          synostosis 354
            syndactyly 137
              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 + 19
              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 + 80
              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 16465
    disease of anatomical entity 14117
      musculoskeletal system disease 7378
        connective tissue disease 5008
          bone disease 3672
            bone development disease 2182
              dysostosis 543
                synostosis 354
                  syndactyly 137
                    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 + 19
                    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 + 80
                    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