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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.


GViewer not supported for chinchilla.
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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 chrNW_004955417:10,060,500...10,080,119
Ensembl chrNW_004955417:10,059,844...10,079,192
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 chrNW_004955468:70,714...78,831
Ensembl chrNW_004955468:71,004...78,827
JBrowse link
G Fbn2 fibrillin 2 ISO RGD PMID:11285249 RGD:1300320 NCBI chrNW_004955415:1,307,553...1,535,435
Ensembl chrNW_004955415:1,309,077...1,537,052
JBrowse link
G Fzd4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chrNW_004955414:6,094,585...6,103,910
Ensembl chrNW_004955414:6,094,585...6,098,865
JBrowse link
G Gdf5 growth differentiation factor 5 ISO DNA:insertion:cds: RGD PMID:18984342 RGD:12738203 NCBI chrNW_004955422:25,992,081...25,997,122
Ensembl chrNW_004955422:25,992,081...25,997,122
JBrowse link
G Gja1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Non-syndromic syndactyly ClinVar PMID:25741868 NCBI chrNW_004955436:3,612,533...3,618,095
Ensembl chrNW_004955436:3,612,533...3,618,095
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
RGD
ClinVar
PMID:25267529 RGD:12738225 NCBI chrNW_004955460:1,528,457...1,805,584
Ensembl chrNW_004955460:1,528,412...1,805,918
JBrowse link
G Hoxd13 homeobox D13 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955403:20,568,314...20,575,579
Ensembl chrNW_004955403:20,568,314...20,575,579
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_004955489:2,404,773...2,434,729
Ensembl chrNW_004955489:2,415,925...2,437,837
JBrowse link
G Jag2 jagged canonical Notch ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9531541 NCBI chrNW_004955538:3,421,685...3,433,829
Ensembl chrNW_004955538:3,421,685...3,433,842
JBrowse link
G Lrp4 LDL receptor related protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16207730 NCBI chrNW_004955422:1,191,338...1,238,227
Ensembl chrNW_004955422:1,191,338...1,238,227
JBrowse link
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chrNW_004955402:42,339,380...42,688,661
Ensembl chrNW_004955402:42,339,380...42,688,714
JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Non-syndromic syndactyly ClinVar PMID:25741868 NCBI chrNW_004955468:138,262...149,480
Ensembl chrNW_004955468:138,542...149,686
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_004955463:14,013,247...14,064,354
Ensembl chrNW_004955463:14,013,247...14,064,111
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 severity
treatment
ISO DNA:missense mutation:cds:p.P253R (human) OMIM
RGD
PMID:10735635 PMID:17694057 RGD:12801474 RGD:12801488 NCBI chrNW_004955551:2,321,190...2,427,000 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
RGD
CTD
PMID:8988166 PMID:15923834 PMID:23354436 RGD:1624353 NCBI chrNW_004955410:22,003,981...22,005,483 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_004955413:29,837,134...29,911,313
Ensembl chrNW_004955413:29,837,134...29,912,222
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 OMIM NCBI chrNW_004955403:20,568,314...20,575,579
Ensembl chrNW_004955403:20,568,314...20,575,579
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 chrNW_004955502:2,984,233...2,994,457 JBrowse link
G Megf8 multiple EGF like domains 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955555:549,921...591,978
Ensembl chrNW_004955555:548,416...591,978
JBrowse link
G Rab23 RAB23, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Carpenter syndrome
CTD
ClinVar
PMID:17503333 PMID:21412941 PMID:23599695 PMID:24458945 PMID:25168863 PMID:25741868 PMID:28492532 NCBI chrNW_004955502:2,947,170...2,980,634
Ensembl chrNW_004955502:2,950,562...2,980,634
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_004955502:2,984,233...2,994,457 JBrowse link
G Rab23 RAB23, member RAS oncogene family ISO OMIM NCBI chrNW_004955502:2,947,170...2,980,634
Ensembl chrNW_004955502:2,950,562...2,980,634
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 OMIM NCBI chrNW_004955555:549,921...591,978
Ensembl chrNW_004955555:548,416...591,978
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 OMIM NCBI chrNW_004955422:1,191,338...1,238,227
Ensembl chrNW_004955422:1,191,338...1,238,227
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 OMIM NCBI chrNW_004955412:20,683,007...20,745,069
Ensembl chrNW_004955412:20,682,861...20,745,069
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 OMIM NCBI chrNW_004955424:20,723,592...21,114,801 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 OMIM NCBI chrNW_004955468:12,841,369...12,858,331
Ensembl chrNW_004955468:12,841,369...12,858,329
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 OMIM NCBI chrNW_004955470:1,552,279...1,581,261
Ensembl chrNW_004955470:1,552,128...1,581,980
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 chrNW_004955433:2,547,228...2,957,294
Ensembl chrNW_004955433:2,547,323...2,957,495
JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17163535 NCBI chrNW_004955431:7,364,937...7,541,419
Ensembl chrNW_004955431:7,364,937...7,541,648
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 OMIM NCBI chrNW_004955433:2,547,228...2,957,294
Ensembl chrNW_004955433:2,547,323...2,957,495
JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Fraser syndrome 1
ClinVar Annotator: match by term: FRASER SYNDROME 1
ClinVar PMID:25741868 PMID:26275891 PMID:28492532 NCBI chrNW_004955431:7,364,937...7,541,419
Ensembl chrNW_004955431:7,364,937...7,541,648
JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 1
ClinVar Annotator: match by term: Cryptophthalmos syndrome
ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955458:12,970,858...13,179,369
Ensembl chrNW_004955458:12,967,089...13,214,838
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 OMIM NCBI chrNW_004955431:7,364,937...7,541,419
Ensembl chrNW_004955431:7,364,937...7,541,648
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_004955437:20,592,278...20,664,075
Ensembl chrNW_004955437:20,593,739...20,664,075
JBrowse link
G Aipl1 aryl hydrocarbon receptor interacting protein like 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004955467:11,952,940...11,962,147
Ensembl chrNW_004955467:11,952,495...11,962,153
JBrowse link
G Aspa aspartoacylase ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004955467:13,277,014...13,332,658
Ensembl chrNW_004955467:13,280,254...13,316,114
JBrowse link
G Bclaf1 BCL2 associated transcription factor 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004955439:608,849...641,005
Ensembl chrNW_004955439:608,861...641,005
JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004955467:8,766,322...8,769,169 JBrowse link
G Gnb5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004955409:2,621,144...2,642,298
Ensembl chrNW_004955409:2,619,718...2,641,308
JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO OMIM NCBI chrNW_004955458:12,970,858...13,179,369
Ensembl chrNW_004955458:12,967,089...13,214,838
JBrowse link
G Lsm10 LSM10, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004955452:14,354,020...14,358,867
Ensembl chrNW_004955452:14,354,026...14,358,267
JBrowse link
G Med23 mediator complex subunit 23 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004955436:12,249,995...12,293,812
Ensembl chrNW_004955436:12,249,995...12,293,813
JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004955439:15,515,966...15,531,618
Ensembl chrNW_004955439:15,516,090...15,531,116
JBrowse link
G Myo18b myosin XVIIIB ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004955455:437,308...696,161
Ensembl chrNW_004955455:437,291...696,376
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_004955559:2,123,941...2,153,192
Ensembl chrNW_004955559:2,124,525...2,151,610
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar PMID:28492532 NCBI chrNW_004955422:22,362,330...22,418,062
Ensembl chrNW_004955422:22,362,221...22,427,622
JBrowse link
G Spata22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004955467:13,304,314...13,325,228
Ensembl chrNW_004955467:13,306,496...13,325,300
JBrowse link
G Tlcd3a TLC domain containing 3A ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004955481:2,283,620...2,292,100
Ensembl chrNW_004955481:2,283,620...2,291,352
JBrowse link
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004955481:1,450,127...1,462,564
Ensembl chrNW_004955481:1,449,350...1,462,555
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 OMIM NCBI chrNW_004955460:1,528,457...1,805,584
Ensembl chrNW_004955460:1,528,412...1,805,918
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 OMIM NCBI chrNW_004955446:18,163,117...18,244,840
Ensembl chrNW_004955446:18,163,117...18,245,199
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO OMIM NCBI chrNW_004955551:2,321,190...2,427,000 JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO OMIM NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590
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 OMIM NCBI chrNW_004955481:2,769,023...2,770,269
Ensembl chrNW_004955481:2,769,072...2,769,833
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 OMIM NCBI chrNW_004955436:3,612,533...3,618,095
Ensembl chrNW_004955436:3,612,533...3,618,095
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 OMIM NCBI chrNW_004955436:3,612,533...3,618,095
Ensembl chrNW_004955436:3,612,533...3,618,095
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_004955412:20,683,007...20,745,069
Ensembl chrNW_004955412:20,682,861...20,745,069
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 OMIM NCBI chrNW_004955402:42,339,380...42,688,661
Ensembl chrNW_004955402:42,339,380...42,688,714
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 OMIM NCBI chrNW_004955463:14,013,247...14,064,354
Ensembl chrNW_004955463:14,013,247...14,064,111
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO OMIM NCBI chrNW_004955551:2,321,190...2,427,000 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 OMIM NCBI chrNW_004955489:2,404,773...2,434,729
Ensembl chrNW_004955489:2,415,925...2,437,837
JBrowse link
G Ripk4 receptor interacting serine/threonine kinase 4 ISO ClinVar Annotator: match by term: Popliteal pterygium syndrome ClinVar NCBI chrNW_004955407:39,728,645...39,748,752
Ensembl chrNW_004955407:39,728,634...39,748,791
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 OMIM NCBI chrNW_004955407:39,728,645...39,748,752
Ensembl chrNW_004955407:39,728,634...39,748,791
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 OMIM NCBI chrNW_004955410:22,003,981...22,005,483 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 OMIM NCBI chrNW_004955551:2,321,190...2,427,000 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 chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO OMIM NCBI chrNW_004955410:22,003,981...22,005,483 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_004955422:1,191,338...1,238,227
Ensembl chrNW_004955422:1,191,338...1,238,227
JBrowse link
G Sost sclerostin ISO DNA:transition: :69C>T (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:11179006 RGD:68858 NCBI chrNW_004955451:17,054,939...17,058,027
Ensembl chrNW_004955451:17,054,939...17,058,027
JBrowse link
sclerosteosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sost sclerostin ISO OMIM NCBI chrNW_004955451:17,054,939...17,058,027
Ensembl chrNW_004955451:17,054,939...17,058,027
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 OMIM NCBI chrNW_004955422:1,191,338...1,238,227
Ensembl chrNW_004955422:1,191,338...1,238,227
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_004955451:6,269,168...6,656,763
Ensembl chrNW_004955451:6,305,394...6,571,389
JBrowse link
G Nog noggin ISO OMIM NCBI chrNW_004955451:6,192,368...6,193,766
Ensembl chrNW_004955451:6,193,042...6,193,740
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_004955453:14,376,665...14,382,536
Ensembl chrNW_004955453:14,376,718...14,381,747
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 OMIM NCBI chrNW_004955436:3,612,533...3,618,095
Ensembl chrNW_004955436:3,612,533...3,618,095
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 OMIM NCBI chrNW_004955491:9,171,462...9,217,996 JBrowse link
G Shh sonic hedgehog signaling molecule ISO DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chrNW_004955491:8,647,133...8,657,381 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 chrNW_004955436:3,612,533...3,618,095
Ensembl chrNW_004955436:3,612,533...3,618,095
JBrowse link
G Hoxd13 homeobox D13 ISO OMIM NCBI chrNW_004955403:20,568,314...20,575,579
Ensembl chrNW_004955403:20,568,314...20,575,579
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 OMIM NCBI chrNW_004955557:906,361...915,590
Ensembl chrNW_004955557:905,576...919,415
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 OMIM NCBI chrNW_004955580:336,681...349,435
Ensembl chrNW_004955580:336,681...349,435
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 chrNW_004955405:38,985,046...39,134,130
Ensembl chrNW_004955405:38,985,046...39,139,021
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 chrNW_004955405:38,985,046...39,134,130
Ensembl chrNW_004955405:38,985,046...39,139,021
JBrowse link
G Hoxd13 homeobox D13 severity ISO DNA:insertion:exon OMIM
RGD
PMID:9207113 RGD:12743592 NCBI chrNW_004955403:20,568,314...20,575,579
Ensembl chrNW_004955403:20,568,314...20,575,579
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 OMIM NCBI chrNW_004955413:29,837,134...29,911,313
Ensembl chrNW_004955413:29,837,134...29,912,222
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 OMIM NCBI chrNW_004955451:6,192,368...6,193,766
Ensembl chrNW_004955451:6,193,042...6,193,740
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 OMIM NCBI chrNW_004955454:4,573,647...5,199,046
Ensembl chrNW_004955454:4,490,923...5,198,506
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 OMIM NCBI chrNW_004955479:9,963,377...9,991,670
Ensembl chrNW_004955479:9,964,170...9,993,165
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12530
    syndrome 6369
      chromosomal duplication syndrome 666
        syndactyly 57
          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 + 18
          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 12530
    disease of anatomical entity 12210
      musculoskeletal system disease 5368
        connective tissue disease 3597
          bone disease 2449
            bone development disease 1275
              dysostosis 351
                synostosis 216
                  syndactyly 57
                    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 + 18
                    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