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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:2-3 toe syndactyly
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Accession:HP:0004691 term browser browse the term
Definition:Syndactyly with fusion of toes two and three.
Synonyms:exact_synonym: 2-3 syndactyly of feet;   2-3 toe soft tissue syndactyly;   2-3 toes syndactyly;   Syndactyly of second and third toes;   Webbed 2nd and 3rd toes;   partial or complete syndactyly 2nd-3rd toes
 alt_id: HP:0001846;   HP:0001856;   HP:0003773;   HP:0004683;   HP:0004685;   HP:0004697;   HP:0004703;   HP:0008086;   HP:0008123
 xref: SNOMEDCT_US:205145001;   UMLS:C0432040


show annotations for term's descendants           Sort by:
2-3 toe syndactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADNP activity dependent neuroprotector homeobox IAGP HPO ORPHA:404448 NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437 		JBrowse link
G ALDH1A2 aldehyde dehydrogenase 1 family member A2 IAGP HPO OMIM:620025 NCBI chr15:57,953,429...58,065,711
Ensembl chr15:57,953,424...58,497,866 		JBrowse link
G AP1G1 adaptor related protein complex 1 subunit gamma 1 IAGP HPO OMIM:619467 NCBI chr16:71,729,000...71,808,834
Ensembl chr16:71,729,000...71,809,201 		JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 IAGP HPO ORPHA:821 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244 		JBrowse link
G ARCN1 archain 1 IAGP HPO OMIM:617164 NCBI chr11:118,572,409...118,603,033
Ensembl chr11:118,572,390...118,603,033 		JBrowse link
G BBS7 Bardet-Biedl syndrome 7 IAGP HPO OMIM:615984 NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487 		JBrowse link
G BCOR BCL6 corepressor IAGP HPO OMIM:300166 ORPHA:2712 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G BHLHA9 basic helix-loop-helix family member a9 IAGP HPO ORPHA:157801 NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815 		JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP HPO OMIM:112600 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246 		JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP HPO OMIM:112600 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448 		JBrowse link
G CDC45 cell division cycle 45 IAGP HPO OMIM:617063 NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612 		JBrowse link
G CEP55 centrosomal protein 55 IAGP HPO OMIM:236500 NCBI chr10:93,496,612...93,529,092
Ensembl chr10:93,496,612...93,529,092 		JBrowse link
G CERT1 ceramide transporter 1 IAGP HPO OMIM:616351 NCBI chr 5:75,368,486...75,511,981
Ensembl chr 5:75,356,345...75,512,138 		JBrowse link
G CLCF1 cardiotrophin like cytokine factor 1 IAGP HPO OMIM:610313 NCBI chr11:67,364,168...67,374,177
Ensembl chr11:67,364,168...67,374,177 		JBrowse link
G CNOT2 CCR4-NOT transcription complex subunit 2 IAGP HPO OMIM:618608 NCBI chr12:70,243,018...70,354,993
Ensembl chr12:70,243,002...70,354,993 		JBrowse link
G CNTNAP1 contactin associated protein 1 IAGP HPO OMIM:618186 NCBI chr17:42,682,531...42,699,993
Ensembl chr17:42,682,531...42,699,993 		JBrowse link
G CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 IAGP HPO OMIM:618870 NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029 		JBrowse link
G CTCF CCCTC-binding factor IAGP HPO ORPHA:363611 NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177 		JBrowse link
G DDX11 DEAD/H-box helicase 11 IAGP HPO OMIM:613398 NCBI chr12:31,073,860...31,104,799
Ensembl chr12:31,073,860...31,104,799 		JBrowse link
G DDX6 DEAD-box helicase 6 IAGP HPO OMIM:618653 NCBI chr11:118,747,763...118,791,744
Ensembl chr11:118,747,763...118,791,164 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP ClinVar Annotator: match by term: 2-3 toe syndactyly ClinVar
HPO		 PMID:9634533 PMID:9653161 PMID:10677299 PMID:10995508 PMID:11078571 More... OMIM:270400 ORPHA:818 NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase IAGP ClinVar Annotator: match by term: 2-3 toe syndactyly ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More... NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000 		JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP HPO OMIM:300960 ORPHA:401973 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716 		JBrowse link
G FBXW11 F-box and WD repeat domain containing 11 IAGP HPO OMIM:618914 NCBI chr 5:171,861,549...172,006,638
Ensembl chr 5:171,861,549...172,006,873 		JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 IAGP HPO OMIM:618156 NCBI chr 8:11,795,582...11,839,309
Ensembl chr 8:11,795,573...11,839,395 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO OMIM:123150 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO OMIM:123150 ORPHA:1540 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO OMIM:112600 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP HPO OMIM:269921 ORPHA:3166 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042 		JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase IAGP ClinVar Annotator: match by term: 2-3 toe syndactyly ClinVar PMID:25741868 PMID:28492532 NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431 		JBrowse link
G H4C9 H4 clustered histone 9 IAGP HPO OMIM:619951 NCBI chr 6:27,139,282...27,139,678
Ensembl chr 6:27,139,282...27,139,678 		JBrowse link
G HEPHL1 hephaestin like 1 IAGP HPO OMIM:261990 NCBI chr11:94,021,354...94,114,208
Ensembl chr11:94,021,354...94,114,208 		JBrowse link
G HOXD13 homeobox D13 IAGP HPO ORPHA:93406 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO OMIM:619471 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G IFT43 intraflagellar transport 43 IAGP HPO OMIM:614099 OMIM:617866 NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585 		JBrowse link
G IL11RA interleukin 11 receptor subunit alpha IAGP HPO OMIM:614188 NCBI chr 9:34,652,185...34,661,902
Ensembl chr 9:34,652,162...34,661,902 		JBrowse link
G JARID2 jumonji and AT-rich interaction domain containing 2 IAGP HPO OMIM:620098 NCBI chr 6:15,246,069...15,522,042
Ensembl chr 6:15,246,069...15,522,042 		JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP HPO ORPHA:37553 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044 		JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IAGP HPO ORPHA:37553 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163 		JBrowse link
G KCTD1 potassium channel tetramerization domain containing 1 IAGP HPO OMIM:181270 NCBI chr18:26,454,910...26,657,473
Ensembl chr18:26,454,910...26,657,401 		JBrowse link
G KMT2A lysine methyltransferase 2A IAGP HPO OMIM:605130 NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832 		JBrowse link
G KMT2B lysine methyltransferase 2B IAGP HPO OMIM:619934 NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880 		JBrowse link
G LMBR1 limb development membrane protein 1 IAGP HPO OMIM:186200 NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216 		JBrowse link
G MAB21L2 mab-21 like 2 IAGP HPO OMIM:615877 NCBI chr 4:150,582,151...150,584,693
Ensembl chr 4:150,582,151...150,584,693 		JBrowse link
G MAN1B1 mannosidase alpha class 1B member 1 IAGP HPO ORPHA:397941 NCBI chr 9:137,086,985...137,109,183
Ensembl chr 9:137,086,857...137,109,189 		JBrowse link
G MAPRE2 microtubule associated protein RP/EB family member 2 IAGP HPO OMIM:616734 NCBI chr18:34,977,027...35,143,470
Ensembl chr18:34,976,928...35,143,470 		JBrowse link
G MED25 mediator complex subunit 25 IAGP HPO OMIM:616449 ORPHA:464738 NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383 		JBrowse link
G MEF2C myocyte enhancer factor 2C IAGP HPO OMIM:613443 NCBI chr 5:88,717,117...88,904,105
Ensembl chr 5:88,717,117...88,904,257 		JBrowse link
G MEIS2 Meis homeobox 2 IAGP HPO OMIM:600987 NCBI chr15:36,889,204...37,101,311
Ensembl chr15:36,889,204...37,101,299 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP HPO OMIM:164280 ORPHA:391641 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007 		JBrowse link
G MYRF myelin regulatory factor IAGP HPO OMIM:618280 NCBI chr11:61,752,636...61,788,518
Ensembl chr11:61,752,636...61,788,518 		JBrowse link
G NBN nibrin IAGP HPO OMIM:251260 NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228 		JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase IAGP HPO OMIM:617201 NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540 		JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP HPO OMIM:122470 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413 		JBrowse link
G NOG noggin IAGP HPO OMIM:186500 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO ORPHA:821 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G PDE6D phosphodiesterase 6D IAGP HPO OMIM:615665 NCBI chr 2:231,732,433...231,781,282
Ensembl chr 2:231,732,433...231,786,272 		JBrowse link
G PHIP pleckstrin homology domain interacting protein IAGP HPO ORPHA:589905 NCBI chr 6:78,934,419...79,078,254
Ensembl chr 6:78,934,419...79,078,287 		JBrowse link
G PIGY phosphatidylinositol glycan anchor biosynthesis class Y IAGP HPO OMIM:616809 NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO ORPHA:3455 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G PSMD12 proteasome 26S subunit, non-ATPase 12 IAGP HPO OMIM:617516 NCBI chr17:67,337,916...67,366,577
Ensembl chr17:67,337,916...67,366,605 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO ORPHA:508498 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
G RAD21 RAD21 cohesin complex component IAGP HPO OMIM:614701 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776 		JBrowse link
G RAI1 retinoic acid induced 1 IAGP HPO ORPHA:477817 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453 		JBrowse link
G RALA RAS like proto-oncogene A IAGP HPO OMIM:619311 NCBI chr 7:39,623,572...39,708,120
Ensembl chr 7:39,623,565...39,708,120 		JBrowse link
G RBPJ recombination signal binding protein for immunoglobulin kappa J region IAGP HPO OMIM:614814 NCBI chr 4:26,105,449...26,435,131
Ensembl chr 4:26,163,455...26,435,131 		JBrowse link
G SALL1 spalt like transcription factor 1 IAGP HPO OMIM:107480 NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334 		JBrowse link
G SATB1 SATB homeobox 1 IAGP HPO OMIM:619229 NCBI chr 3:18,345,377...18,445,592
Ensembl chr 3:18,345,377...18,445,621 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP HPO ORPHA:821 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G SETD5 SET domain containing 5 IAGP HPO ORPHA:404440 NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240 		JBrowse link
G SHANK3 SH3 and multiple ankyrin repeat domains 3 IAGP HPO OMIM:606232 NCBI chr22:50,672,823...50,733,212
Ensembl chr22:50,674,408...50,733,212 		JBrowse link
G SHMT2 serine hydroxymethyltransferase 2 IAGP HPO OMIM:619121 NCBI chr12:57,229,711...57,234,935
Ensembl chr12:57,229,573...57,234,935 		JBrowse link
G SIK3 SIK family kinase 3 IAGP HPO OMIM:618162 NCBI chr11:116,843,402...117,098,428
Ensembl chr11:116,843,402...117,098,437 		JBrowse link
G SLC12A2 solute carrier family 12 member 2 IAGP HPO OMIM:619080 NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677 		JBrowse link
G SLC12A6 solute carrier family 12 member 6 IAGP HPO OMIM:218000 NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO OMIM:139210 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SOX5 SRY-box transcription factor 5 IAGP HPO ORPHA:313892 NCBI chr12:23,529,504...24,562,650
Ensembl chr12:23,529,504...24,562,544 		JBrowse link
G STAG1 STAG1 cohesin complex component IAGP HPO ORPHA:502434 NCBI chr 3:136,336,236...136,752,378
Ensembl chr 3:136,336,236...136,752,403 		JBrowse link
G SYT1 synaptotagmin 1 IAGP HPO ORPHA:522077 NCBI chr12:78,863,982...79,452,008
Ensembl chr12:78,863,993...79,452,008 		JBrowse link
G TAF4 TATA-box binding protein associated factor 4 IAGP HPO OMIM:620450 NCBI chr20:61,974,798...62,065,881
Ensembl chr20:61,953,469...62,065,881 		JBrowse link
G TBCK TBC1 domain containing kinase IAGP HPO ORPHA:488632 NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683 		JBrowse link
G TBX15 T-box transcription factor 15 IAGP HPO OMIM:260660 NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556 		JBrowse link
G TP63 tumor protein p63 IAGP HPO OMIM:106260 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
G TRIO trio Rho guanine nucleotide exchange factor IAGP HPO OMIM:617061 ORPHA:476126 NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128 		JBrowse link
G TRMT5 tRNA methyltransferase 5 IAGP HPO OMIM:616539 NCBI chr14:60,971,441...60,981,690
Ensembl chr14:60,971,441...60,981,170 		JBrowse link
G TTI2 TELO2 interacting protein 2 IAGP HPO ORPHA:391307 NCBI chr 8:33,498,722...33,513,135
Ensembl chr 8:33,473,386...33,513,185 		JBrowse link
G TXNL4A thioredoxin like 4A IAGP HPO OMIM:608572 NCBI chr18:79,970,813...80,033,936
Ensembl chr18:79,970,813...80,033,949 		JBrowse link
G UBE2A ubiquitin conjugating enzyme E2 A IAGP HPO OMIM:300860 NCBI chr  X:119,574,563...119,584,423
Ensembl chr  X:119,474,802...119,591,083 		JBrowse link
G WDPCP WD repeat containing planar cell polarity effector IAGP HPO OMIM:217085 NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843 		JBrowse link
G ZMIZ1 zinc finger MIZ-type containing 1 IAGP HPO OMIM:618659 NCBI chr10:79,068,966...79,316,519
Ensembl chr10:79,068,966...79,316,519 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21570
    Phenotypic abnormality 21560
      Abnormality of limbs 2606
        Abnormality of the lower limb 1881
          Abnormal foot morphology 1547
            Abnormal toe morphology 733
              Toe syndactyly 237
                2-3 toe syndactyly 90
Path 2
Term Annotations click to browse term
  Human phenotype 21570
    Phenotypic abnormality 21560
      Abnormality of the musculoskeletal system 4447
        Abnormality of the skeletal system 3683
          Abnormal skeletal morphology 3563
            Abnormal appendicular skeleton morphology 2013
              Abnormal limb bone morphology 1881
                Abnormal digit morphology 1648
                  Syndactyly 419
                    Toe syndactyly 237
                      2-3 toe syndactyly 90
paths to the root