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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 4:42,957,848...42,985,482
Ensembl chr 4:42,957,712...42,985,459
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 6:48,135,738...48,155,373
Ensembl chr 6:48,147,730...48,155,373
JBrowse link
G FBN2 fibrillin 2 ISO RGD PMID:11285249 RGD:1300320 NCBI chr 2:131,150,665...131,370,241
Ensembl chr 2:131,152,127...131,370,466
JBrowse link
G FZD4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chr 9:20,714,995...20,721,460
Ensembl chr 9:20,294,885...20,721,766
JBrowse link
G GDF5 growth differentiation factor 5 ISO DNA:insertion:cds: RGD PMID:18984342 RGD:12738203 NCBI chr17:38,792,854...38,796,806
Ensembl chr17:38,792,323...38,797,446
JBrowse link
G GJA1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Non-syndromic syndactyly ClinVar PMID:25741868 NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,515...41,002,137
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 chr18:52,403,463...52,697,906
Ensembl chr18:52,404,071...52,697,903
JBrowse link
G HOXD13 homeobox D13 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:81,893,997...81,897,965
Ensembl chr15:81,894,121...81,898,944
JBrowse link
G IRF6 interferon regulatory factor 6 ISO popliteal pterygium syndrome, OMIM:119500 DNA:nonsense_mutation:CDS:amino acid Q393X RGD PMID:12219090 RGD:1600214 NCBI chr 9:133,164,360...133,184,045
Ensembl chr 9:133,164,440...133,185,628
JBrowse link
G JAG2 jagged canonical Notch ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9531541
G LRP4 LDL receptor related protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16207730 NCBI chr 2:15,616,137...15,672,876
Ensembl chr 2:15,616,131...15,672,874
JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr 1:162,364,053...162,736,515
Ensembl chr 1:162,364,055...162,737,492
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 6:48,069,532...48,080,001
Ensembl chr 6:48,069,564...48,079,672
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 chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,746
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 chr14:131,183,095...131,285,001
Ensembl chr14:131,181,710...131,579,703
JBrowse link
G TWIST1 twist family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism
SCS,OMIM:101400;DNA:point mutation:exon:Y103X,Q119P
CTD
RGD
PMID:8988166 PMID:15923834 PMID:23354436 RGD:1624353 NCBI chr 9:88,286,911...88,290,131 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 5:3,839,498...3,927,178
Ensembl chr 5:3,839,501...3,927,183
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 chr15:81,893,997...81,897,965
Ensembl chr15:81,894,121...81,898,944
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 7:28,668,587...28,680,497
Ensembl chr 7:28,659,753...28,680,491
JBrowse link
G MEGF8 multiple EGF like domains 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:49,572,905...49,619,120
Ensembl chr 6:49,577,403...49,618,921
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 chr 7:28,632,065...28,658,958
Ensembl chr 7:28,632,082...28,658,953
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 7:28,668,587...28,680,497
Ensembl chr 7:28,659,753...28,680,491
JBrowse link
G RAB23 RAB23, member RAS oncogene family ISO OMIM NCBI chr 7:28,632,065...28,658,958
Ensembl chr 7:28,632,082...28,658,953
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 chr 6:49,572,905...49,619,120
Ensembl chr 6:49,577,403...49,618,921
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 chr 2:15,616,137...15,672,876
Ensembl chr 2:15,616,131...15,672,874
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 chr 9:46,823,552...46,891,564
Ensembl chr 9:46,789,726...46,891,233
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 chr 3:78,435,154...78,726,313 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 chr 4:89,356,935...89,374,358
Ensembl chr 4:89,355,407...89,374,358
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 chr 3:43,736,526...43,772,995
Ensembl chr 3:43,736,744...43,772,974
JBrowse link
G NT5DC4 5'-nucleotidase domain containing 4 ISO ClinVar Annotator: match by term: Filippi syndrome ClinVar PMID:25741868 NCBI chr 3:43,778,331...43,789,122
Ensembl chr 3:43,779,259...43,789,121
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 chr 8:73,502,368...73,959,454
Ensembl chr 8:73,502,664...73,958,083
JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17163535 NCBI chr11:13,775,267...14,116,377
Ensembl chr11:13,959,865...14,154,246
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 chr 8:73,502,368...73,959,454
Ensembl chr 8:73,502,664...73,958,083
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 chr11:13,775,267...14,116,377
Ensembl chr11:13,959,865...14,154,246
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 chr 5:30,697,018...31,175,412
Ensembl chr 5:30,697,018...31,020,790
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 chr11:13,775,267...14,116,377
Ensembl chr11:13,959,865...14,154,246
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 chr14:73,565,158...73,657,257
Ensembl chr14:73,500,281...73,654,982
JBrowse link
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr12:50,903,358...50,917,187
Ensembl chr12:50,903,438...50,920,437
JBrowse link
G ASPA aspartoacylase ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr12:49,612,845...49,630,303
Ensembl chr12:49,610,519...49,641,905
JBrowse link
G BCLAF1 BCL2 associated transcription factor 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 1:27,872,167...27,902,980
Ensembl chr 1:27,872,184...27,919,899
JBrowse link
G BORCS6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr12:53,394,514...53,406,752
Ensembl chr12:53,404,339...53,406,207
JBrowse link
G GNB5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 1:119,545,382...119,589,860
Ensembl chr 1:119,484,397...119,589,868
JBrowse link
G GRIP1 glutamate receptor interacting protein 1 ISO OMIM NCBI chr 5:30,697,018...31,175,412
Ensembl chr 5:30,697,018...31,020,790
JBrowse link
G LOC100511114 zinc finger X-linked protein ZXDB ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr  X:49,787,449...49,790,835 JBrowse link
G LSM10 LSM10, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 6:92,489,921...92,496,886
Ensembl chr 6:92,489,924...92,493,665
JBrowse link
G MED23 mediator complex subunit 23 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 1:31,959,934...32,001,591
Ensembl chr 1:31,959,934...32,001,584
JBrowse link
G MPC1 mitochondrial pyruvate carrier 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 1:2,541,475...2,552,864 JBrowse link
G MYO18B myosin XVIIIB ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr14:43,467,823...43,687,729
Ensembl chr14:43,451,850...43,687,727
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 6:53,729,915...53,754,508 JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar PMID:28492532 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,325...26,703,225
JBrowse link
G SPATA22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr12:49,573,050...49,609,232 JBrowse link
G TLCD3A TLC domain containing 3A ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr12:47,116,523...47,125,523
Ensembl chr12:47,116,565...47,125,147
JBrowse link
G WDR81 WD repeat domain 81 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr12:47,921,818...47,933,782
Ensembl chr12:47,922,002...47,933,780
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 chr18:52,403,463...52,697,906
Ensembl chr18:52,404,071...52,697,903
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 chr16:28,695,465...28,779,953
Ensembl chr16:28,695,469...28,777,541
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO OMIM NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,710...131,579,703
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO OMIM NCBI chr 8:879,151...894,968
Ensembl chr 8:879,151...895,912
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 chr12:46,641,389...46,643,923
Ensembl chr12:46,642,545...46,643,219
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 chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,515...41,002,137
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 chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,515...41,002,137
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 chr 9:46,823,552...46,891,564
Ensembl chr 9:46,789,726...46,891,233
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 chr 1:162,364,053...162,736,515
Ensembl chr 1:162,364,055...162,737,492
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 chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,746
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO OMIM NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,710...131,579,703
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 chr 9:133,164,360...133,184,045
Ensembl chr 9:133,164,440...133,185,628
JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 ISO ClinVar Annotator: match by term: Popliteal pterygium syndrome ClinVar NCBI chr13:205,127,239...205,153,000
Ensembl chr13:205,127,239...205,153,007
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 chr13:205,127,239...205,153,000
Ensembl chr13:205,127,239...205,153,007
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 chr 9:88,286,911...88,290,131 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 chr14:131,183,095...131,285,001
Ensembl chr14:131,181,710...131,579,703
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 chr 8:879,151...894,968
Ensembl chr 8:879,151...895,912
JBrowse link
G TWIST1 twist family bHLH transcription factor 1 ISO OMIM NCBI chr 9:88,286,911...88,290,131 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 2:15,616,137...15,672,876
Ensembl chr 2:15,616,131...15,672,874
JBrowse link
G SOST sclerostin ISO DNA:transition: :69C>T (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:11179006 RGD:68858 NCBI chr12:19,354,912...19,360,348
Ensembl chr12:19,355,234...19,360,353
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 chr12:19,354,912...19,360,348
Ensembl chr12:19,355,234...19,360,353
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 chr 2:15,616,137...15,672,876
Ensembl chr 2:15,616,131...15,672,874
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 chr12:32,479,469...32,823,527
Ensembl chr12:32,386,769...32,821,340
JBrowse link
G NOG noggin ISO OMIM NCBI chr12:32,891,321...32,892,206
Ensembl chr12:32,891,321...32,892,206
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 chr15:121,083,750...121,090,548
Ensembl chr15:121,083,753...121,090,121
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 chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,515...41,002,137
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 chr18:1,795,462...1,934,951
Ensembl chr18:1,795,490...1,934,949
JBrowse link
G SHH sonic hedgehog signaling molecule ISO DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,718...2,555,484
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 chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,515...41,002,137
JBrowse link
G HOXD13 homeobox D13 ISO OMIM NCBI chr15:81,893,997...81,897,965
Ensembl chr15:81,894,121...81,898,944
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 chr  X:61,551,487...61,561,807
Ensembl chr  X:61,551,780...61,561,230
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 chr  X:124,361,003...124,370,072
Ensembl chr  X:124,361,002...124,369,868
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 5:79,788,558...80,068,903
Ensembl chr 5:79,787,995...80,067,816
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 5:79,788,558...80,068,903
Ensembl chr 5:79,787,995...80,067,816
JBrowse link
G HOXD13 homeobox D13 severity ISO DNA:insertion:exon OMIM
RGD
PMID:9207113 RGD:12743592 NCBI chr15:81,893,997...81,897,965
Ensembl chr15:81,894,121...81,898,944
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 chr 5:3,839,498...3,927,178
Ensembl chr 5:3,839,501...3,927,183
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 chr12:32,891,321...32,892,206
Ensembl chr12:32,891,321...32,892,206
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 chr 5:69,016,954...69,448,428 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 chr18:19,450,730...19,478,796
Ensembl chr18:19,450,734...19,479,374
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13437
    syndrome 6736
      chromosomal duplication syndrome 743
        syndactyly 59
          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 + 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 13437
    disease of anatomical entity 13099
      musculoskeletal system disease 5645
        connective tissue disease 3812
          bone disease 2561
            bone development disease 1321
              dysostosis 370
                synostosis 224
                  syndactyly 59
                    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 + 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