ONTOLOGY REPORT - ANNOTATIONS


Term:syndactyly
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Accession:DOID:11193 term browser browse the term
Definition:A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements.
Synonyms:exact_synonym: Polysyndactyly;   Syndactylia;   Syndactylias;   Syndactylies;   chromosome 2q35 duplication syndrome;   symphalangism;   symphalangy;   webbing of digits
 primary_id: MESH:D013576;   RDO:0001077
 xref: GARD:13181;   ORDO:295012;   ORDO:90025;   ORDO:93402;   ORDO:93403;   ORDO:93404;   ORDO:93406
For additional species annotation, visit the Alliance of Genome Resources.


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syndactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dll3 delta like canonical Notch ligand 3 JBrowse link 1 85,485,875 85,493,683 RGD:8554872
G Fam92a family with sequence similarity 92 member A JBrowse link 5 25,732,457 25,750,953 RGD:11554173
G Fbn2 fibrillin 2 JBrowse link 18 53,068,495 53,272,254 RGD:1300320
G Fzd4 frizzled class receptor 4 JBrowse link 1 153,589,471 153,598,376 RGD:11554173
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:12738203
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:8554872
RGD:13592920
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:12738225
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:11554173
G Irf6 interferon regulatory factor 6 JBrowse link 13 111,870,121 111,889,328 RGD:1600214
G Jag2 jagged canonical Notch ligand 2 JBrowse link 6 137,711,144 137,733,331 RGD:11554173
G Lmbr1 limb development membrane protein 1 JBrowse link 4 2,116,094 2,274,111 RGD:13592920
G Lrp4 LDL receptor related protein 4 JBrowse link 3 80,362,643 80,416,684 RGD:11554173
G Nedd4l neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase JBrowse link 18 60,392,376 60,719,720 RGD:11554173
acrocephalosyndactylia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:11567243
RGD:11567271
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:7240710
RGD:8554872
RGD:12801488
RGD:12801475
RGD:12801474
RGD:12801413
RGD:11554173
RGD:8547743
G Twist1 twist family bHLH transcription factor 1 JBrowse link 6 53,401,241 53,403,235 RGD:1624353
RGD:11554173
Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbln1 fibulin 1 JBrowse link 7 126,096,793 126,176,468 RGD:8554872
brachydactyly-syndactyly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:7240710
RGD:8554872
RGD:11554173
Carpenter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Megf8 multiple EGF-like-domains 8 JBrowse link 1 82,184,671 82,234,045 RGD:11554173
G Rab23 RAB23, member RAS oncogene family JBrowse link 9 38,469,784 38,496,185 RGD:8554872
RGD:11554173
Carpenter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab23 RAB23, member RAS oncogene family JBrowse link 9 38,469,784 38,496,185 RGD:7240710
RGD:8554872
Carpenter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Megf8 multiple EGF-like-domains 8 JBrowse link 1 82,184,671 82,234,045 RGD:7240710
RGD:8554872
Cenani-Lenz syndactyly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp4 LDL receptor related protein 4 JBrowse link 3 80,362,643 80,416,684 RGD:7240710
RGD:8554872
cleft lip-palate-ectodermal dysplasia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nectin1 nectin cell adhesion molecule 1 JBrowse link 8 48,094,233 48,198,499 RGD:7240710
RGD:8554872
RGD:11554173
Ectodermal Dysplasia-Syndactyly Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nectin4 nectin cell adhesion molecule 4 JBrowse link 13 89,755,665 89,774,185 RGD:7240710
RGD:8554872
Filippi Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ckap2l cytoskeleton associated protein 2-like JBrowse link 3 121,796,221 121,822,352 RGD:8554872
RGD:7240710
Fraser syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fras1 Fraser extracellular matrix complex subunit 1 JBrowse link 14 14,438,392 14,853,016 RGD:11554173
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:13592920
G Frem2 Fras1 related extracellular matrix protein 2 JBrowse link 2 142,747,501 142,885,604 RGD:11554173
RGD:8554872
G Grip1 glutamate receptor interacting protein 1 JBrowse link 7 64,672,723 64,854,939 RGD:8554872
RGD:13592920
Fraser Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fras1 Fraser extracellular matrix complex subunit 1 JBrowse link 14 14,438,392 14,853,016 RGD:1598960
RGD:8554872
RGD:7240710
G Frem2 Fras1 related extracellular matrix protein 2 JBrowse link 2 142,747,501 142,885,604 RGD:8554872
G Grip1 glutamate receptor interacting protein 1 JBrowse link 7 64,672,723 64,854,939 RGD:8554872
Fraser Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frem2 Fras1 related extracellular matrix protein 2 JBrowse link 2 142,747,501 142,885,604 RGD:13464328
RGD:7240710
RGD:8554872
G Frem2fpl Fras1 related extracellular matrix protein 2;fpl mutant RGD:13464328
Fraser Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grip1 glutamate receptor interacting protein 1 JBrowse link 7 64,672,723 64,854,939 RGD:8554872
RGD:7240710
Greig cephalopolysyndactyly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:7240710
RGD:8554872
RGD:12738222
RGD:12738208
RGD:12738205
RGD:12738141
RGD:11554173
LADD syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf10 fibroblast growth factor 10 JBrowse link 2 51,673,480 51,747,533 RGD:7240710
RGD:8554872
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:7240710
RGD:8554872
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:7240710
RGD:8554872
oculodentodigital dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:1578474
RGD:8554872
RGD:12910132
RGD:8662400
RGD:8662375
RGD:8662372
RGD:7240710
Oculodentodigital Dysplasia, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:7240710
RGD:8554872
orofacial cleft 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nectin1 nectin cell adhesion molecule 1 JBrowse link 8 48,094,233 48,198,499 RGD:8554872
Orstavik Lindemann Solberg Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdpcp WD repeat containing planar cell polarity effector JBrowse link 14 106,393,959 106,759,511 RGD:8554872
RGD:7240710
Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nedd4l neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase JBrowse link 18 60,392,376 60,719,720 RGD:8554872
Pfeiffer syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:7240710
RGD:8554872
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:7240710
RGD:8554872
popliteal pterygium syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Irf6 interferon regulatory factor 6 JBrowse link 13 111,870,121 111,889,328 RGD:7240710
RGD:8554872
G Ripk4 receptor-interacting serine-threonine kinase 4 JBrowse link 11 38,251,991 38,274,234 RGD:8554872
RGD:13592920
Popliteal Pterygium Syndrome, Lethal Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ripk4 receptor-interacting serine-threonine kinase 4 JBrowse link 11 38,251,991 38,274,234 RGD:7240710
RGD:8554872
Robinow Sorauf Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twist1 twist family bHLH transcription factor 1 JBrowse link 6 53,401,241 53,403,235 RGD:7240710
RGD:8554872
Saethre-Chotzen syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:8554872
RGD:7240710
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:8554872
G Twist1 twist family bHLH transcription factor 1 JBrowse link 6 53,401,241 53,403,235 RGD:8554872
RGD:7240710
RGD:11554173
sclerosteosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp4 LDL receptor related protein 4 JBrowse link 3 80,362,643 80,416,684 RGD:11554173
G Sost sclerostin JBrowse link 10 89,897,087 89,900,131 RGD:68858
RGD:11554173
RGD:8554872
sclerosteosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sost sclerostin JBrowse link 10 89,897,087 89,900,131 RGD:8554872
RGD:7240710
sclerosteosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp4 LDL receptor related protein 4 JBrowse link 3 80,362,643 80,416,684 RGD:7240710
RGD:8554872
Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bhlha9 basic helix-loop-helix family, member a9 JBrowse link 10 63,498,267 63,500,353 RGD:7240710
RGD:8554872
Syndactyly, Type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:7240710
RGD:8554872
Syndactyly, Type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ihh Indian hedgehog signaling molecule JBrowse link 9 82,208,223 82,214,440 RGD:12910956
Syndactyly, Type IV term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmbr1 limb development membrane protein 1 JBrowse link 4 2,116,094 2,274,111 RGD:7240710
RGD:8554872
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:12801418
Syndactyly, Type V term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:7240710
RGD:12738470
RGD:11554173
RGD:8554872
synpolydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst11 carbohydrate sulfotransferase 11 JBrowse link 7 26,641,856 26,890,503 RGD:8554872
G Fbln1 fibulin 1 JBrowse link 7 126,096,793 126,176,468 RGD:13592920
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:13592920
Synpolydactyly 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst11 carbohydrate sulfotransferase 11 JBrowse link 7 26,641,856 26,890,503 RGD:8554872
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:1599534
RGD:7240710
RGD:11554173
RGD:12743595
RGD:12743592
RGD:11098998
RGD:12738399
RGD:11098055
RGD:11098032
RGD:12738377
RGD:12738375
RGD:11098288
RGD:8554872
Synpolydactyly 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbln1 fibulin 1 JBrowse link 7 126,096,793 126,176,468 RGD:7240710
tarsal-carpal coalition syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf9 fibroblast growth factor 9 JBrowse link 15 38,341,657 38,386,945 RGD:8554872
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:8554872
G Nog noggin JBrowse link 10 76,811,759 76,813,386 RGD:7240710
RGD:8554872
RGD:12801450
Timothy syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1c calcium voltage-gated channel subunit alpha1 C JBrowse link 4 150,635,808 151,270,790 RGD:1580173
RGD:8554872
RGD:11554173
RGD:7240710
Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccnq cyclin Q JBrowse link 10 66,019,519 66,020,682 RGD:7240710
RGD:8554872
Winter Shortland Temple Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smo smoothened, frizzled class receptor JBrowse link 4 57,019,941 57,041,779 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      bone development disease 891
        dysostosis 233
          synostosis 148
            syndactyly 41
              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 + 5
              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
              Naguib-Richieri-Costa Syndrome 0
              Oculodentodigital Dysplasia, Autosomal Recessive 1
              Oculodentoosseous Dysplasia Recessive 0
              Orstavik Lindemann Solberg Syndrome 1
              Pavone Fiumara Rizzo Syndrome 0
              Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay 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
              Scott Bryant Graham Syndrome 0
              Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 0
              Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction 1
              Syndactyly, Type 3 1
              Syndactyly, Type I 1
              Syndactyly, Type IV 2
              Syndactyly, Type V 1
              Syndactyly-Polydactyly-Earlobe Syndrome 0
              Timothy syndrome 1
              Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations 1
              Trueb Burg Bottani Syndrome 0
              Winter Shortland Temple Syndrome 1
              Zerres Rietschel Majewski Syndrome 0
              Zygodactyly 1 0
              acrocephalosyndactylia + 7
              brachydactyly-syndactyly syndrome 1
              cleft lip-palate-ectodermal dysplasia syndrome 1
              oculodentodigital dysplasia + 1
              orofacial cleft 7 + 1
              popliteal pterygium syndrome + 2
              sclerosteosis + 2
              synpolydactyly + 3
              tarsal-carpal coalition syndrome 3
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      musculoskeletal system disease 3984
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              dysostosis 233
                synostosis 148
                  syndactyly 41
                    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 + 5
                    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
                    Naguib-Richieri-Costa Syndrome 0
                    Oculodentodigital Dysplasia, Autosomal Recessive 1
                    Oculodentoosseous Dysplasia Recessive 0
                    Orstavik Lindemann Solberg Syndrome 1
                    Pavone Fiumara Rizzo Syndrome 0
                    Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay 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
                    Scott Bryant Graham Syndrome 0
                    Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 0
                    Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction 1
                    Syndactyly, Type 3 1
                    Syndactyly, Type I 1
                    Syndactyly, Type IV 2
                    Syndactyly, Type V 1
                    Syndactyly-Polydactyly-Earlobe Syndrome 0
                    Timothy syndrome 1
                    Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations 1
                    Trueb Burg Bottani Syndrome 0
                    Winter Shortland Temple Syndrome 1
                    Zerres Rietschel Majewski Syndrome 0
                    Zygodactyly 1 0
                    acrocephalosyndactylia + 7
                    brachydactyly-syndactyly syndrome 1
                    cleft lip-palate-ectodermal dysplasia syndrome 1
                    oculodentodigital dysplasia + 1
                    orofacial cleft 7 + 1
                    popliteal pterygium syndrome + 2
                    sclerosteosis + 2
                    synpolydactyly + 3
                    tarsal-carpal coalition syndrome 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.