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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:Broad toe
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Accession:HP:0001837 term browser browse the term
Definition:Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension.
Comment:Note that the girth may be increased in a broad toe, but this must be distinguished from Macrodactyly because in Macrodactyly the length is increased as well. The affected digit should be specified. Note that this assessment may be difficult when the toes are short. This term is not used for the first digit, see Broad hallux. If all five digits are broad, both terms should be used for that patient.
Synonyms:exact_synonym: Wide toe
 xref: UMLS:C1865038


show annotations for term's descendants           Sort by:
Broad toe term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DVL1 dishevelled segment polarity protein 1 IAGP HPO MIM:180700 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO ORPHA:794 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:794 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO ORPHA:672 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G GPC3 glypican 3 IAGP HPO MIM:312870 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G GPC4 glypican 4 IAGP HPO MIM:312870 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase IAGP HPO ORPHA:217059 NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154 		JBrowse link
G IFT122 intraflagellar transport 122 IAGP HPO MIM:218330 NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO ORPHA:93932 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G PRKG2 protein kinase cGMP-dependent 2 IAGP HPO MIM:619636 NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,087,370...81,215,222 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP HPO MIM:268310 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228 		JBrowse link
G TBCK TBC1 domain containing kinase IAGP HPO MIM:616900 ORPHA:488632 NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IAGP HPO ORPHA:794 NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636 		JBrowse link
G WNT5A Wnt family member 5A IAGP HPO MIM:180700 NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539 		JBrowse link
G ZMYM2 zinc finger MYM-type containing 2 IAGP HPO MIM:619522 NCBI chr13:19,863,840...20,089,115
Ensembl chr13:19,958,677...20,091,829 		JBrowse link
Broad 2nd toe term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP295 centrosomal protein 295 IAGP HPO MIM:620767 NCBI chr11:93,661,682...93,730,358
Ensembl chr11:93,661,682...93,730,358 		JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO MIM:280000 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 IAGP HPO MIM:601358 NCBI chr 9:2,015,347...2,193,620
Ensembl chr 9:1,980,290...2,193,624 		JBrowse link
Broad distal hallux term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO MIM:101200 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
Broad hallux term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 IAGP HPO MIM:239850 NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G ACAN aggrecan IAGP HPO MIM:165800 NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353 		JBrowse link
G ADNP activity dependent neuroprotector homeobox IAGP HPO MIM:615873 ORPHA:404448 NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437 		JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 IAGP HPO MIM:614105 NCBI chr14:74,056,847...74,084,453
Ensembl chr14:74,056,847...74,084,492 		JBrowse link
G ASPH aspartate beta-hydroxylase IAGP HPO MIM:601552 NCBI chr 8:61,500,556...61,714,592
Ensembl chr 8:61,500,556...61,714,640 		JBrowse link
G BCOR BCL6 corepressor IAGP HPO MIM:300166 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP HPO MIM: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 MIM:112600 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448 		JBrowse link
G BPTF bromodomain PHD finger transcription factor IAGP HPO MIM:617755 NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378 		JBrowse link
G C2CD3 C2 domain containing 3 centriole elongation regulator IAGP HPO MIM:615948 ORPHA:434179 NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210 		JBrowse link
G CCDC22 coiled-coil domain containing 22 IAGP HPO MIM:300963 NCBI chr  X:49,235,470...49,250,520
Ensembl chr  X:49,235,470...49,250,520 		JBrowse link
G CDK10 cyclin dependent kinase 10 IAGP HPO MIM:617694 NCBI chr16:89,686,689...89,696,354
Ensembl chr16:89,680,737...89,696,354 		JBrowse link
G CHST11 carbohydrate sulfotransferase 11 IAGP HPO MIM:618167 NCBI chr12:104,456,948...104,762,014
Ensembl chr12:104,455,295...104,762,014 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:1856 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G CREBBP CREB binding protein IAGP HPO MIM:180849 MIM:618332 ORPHA:353277 ORPHA:353281 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G CSNK2A1 casein kinase 2 alpha 1 IAGP HPO MIM:617062 NCBI chr20:472,498...543,790
Ensembl chr20:472,498...543,835 		JBrowse link
G DLX5 distal-less homeobox 5 IAGP HPO MIM:183600 NCBI chr 7:97,020,396...97,024,831
Ensembl chr 7:97,020,396...97,024,950 		JBrowse link
G DNM1L dynamin 1 like IAGP HPO MIM:614388 NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650 		JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP HPO MIM:300960 ORPHA:401973 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716 		JBrowse link
G EFNB1 ephrin B1 IAGP HPO MIM:304110 NCBI chr  X:68,829,021...68,842,160
Ensembl chr  X:68,829,021...68,842,160 		JBrowse link
G EP300 E1A binding protein p300 IAGP HPO MIM:180849 MIM:613684 ORPHA:353284 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077 		JBrowse link
G FGF9 fibroblast growth factor 9 IAGP HPO MIM:612961 NCBI chr13:21,671,073...21,704,498
Ensembl chr13:21,671,073...21,704,498 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO MIM:101600 MIM: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 DNA:SNPs, missense mutation:splice junction, CDS:multiple HPO
RGD		 PMID:7795583 MIM:101200 MIM:101600 MIM:123150 MIM:149730, RGD:155663661 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO MIM:602849 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FLNA filamin A IAGP HPO MIM:300321 MIM:304120 MIM:311300 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G GATA6 GATA binding protein 6 IAGP HPO MIM:217095 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO MIM:112600 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G GJA5 gap junction protein alpha 5 IAGP HPO MIM:612474 NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362 		JBrowse link
G GJA8 gap junction protein alpha 8 IAGP HPO MIM:612474 NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO MIM:174200 MIM:175700 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G GPC4 glypican 4 IAGP HPO MIM:301026 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G HNRNPR heterogeneous nuclear ribonucleoprotein R IAGP HPO MIM:620073 NCBI chr 1:23,304,688...23,344,284
Ensembl chr 1:23,303,771...23,344,336 		JBrowse link
G HOXD13 homeobox D13 IAGP HPO MIM:186000 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G IL11RA interleukin 11 receptor subunit alpha IAGP HPO MIM:614188 NCBI chr 9:34,652,185...34,661,902
Ensembl chr 9:34,652,162...34,661,902 		JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP HPO MIM:611816 NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165 		JBrowse link
G KIAA0753 KIAA0753 IAGP HPO MIM:617127 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711 		JBrowse link
G KMT2B lysine methyltransferase 2B IAGP HPO MIM:619934 NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO MIM:620186 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G LBR lamin B receptor IAGP HPO MIM:618019 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G LRP4 LDL receptor related protein 4 IAGP HPO MIM:212780 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO MIM:305450 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MEIS2 Meis homeobox 2 IAGP HPO MIM:600987 NCBI chr15:36,889,204...37,101,311
Ensembl chr15:36,889,204...37,101,299 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP HPO MIM:300855 ORPHA:276432 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
G NBAS NBAS subunit of NRZ tethering complex IAGP HPO MIM:614800 NCBI chr 2:14,778,909...15,561,334
Ensembl chr 2:15,166,916...15,561,340 		JBrowse link
G NEK1 NIMA related kinase 1 IAGP HPO ORPHA:2751 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632 		JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP HPO MIM:217095 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
G NKX2-6 NK2 homeobox 6 IAGP HPO MIM:217095 NCBI chr 8:23,701,740...23,706,756
Ensembl chr 8:23,701,740...23,706,756 		JBrowse link
G NOG noggin IAGP HPO MIM:184460 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP HPO MIM:615923 NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732 		JBrowse link
G NXN nucleoredoxin IAGP HPO MIM:618529 NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776 		JBrowse link
G PDE4D phosphodiesterase 4D IAGP HPO ORPHA:439822 NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120 		JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O IAGP HPO MIM:614749 NCBI chr 9:35,088,688...35,096,591
Ensembl chr 9:35,087,237...35,096,619 		JBrowse link
G PPP2R1A protein phosphatase 2 scaffold subunit Aalpha IAGP HPO MIM:616362 ORPHA:457284 NCBI chr19:52,190,052...52,229,518
Ensembl chr19:52,170,936...52,229,518 		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 PYCR2 pyrroline-5-carboxylate reductase 2 IAGP HPO ORPHA:481152 NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340 		JBrowse link
G RHOA ras homolog family member A IAGP HPO MIM:618727 NCBI chr 3:49,359,145...49,411,976
Ensembl chr 3:49,359,139...49,412,998 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP HPO MIM:268310 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228 		JBrowse link
G SATB2 SATB homeobox 2 IAGP HPO ORPHA:251028 NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266 		JBrowse link
G SCNM1 sodium channel modifier 1 IAGP HPO MIM:620107 NCBI chr 1:151,166,144...151,170,296
Ensembl chr 1:151,156,664...151,170,296 		JBrowse link
G SETBP1 SET binding protein 1 IAGP HPO MIM:616078 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP HPO MIM:154400 NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803 		JBrowse link
G SIAH1 siah E3 ubiquitin protein ligase 1 IAGP HPO MIM:619314 NCBI chr16:48,360,531...48,387,246
Ensembl chr16:48,356,364...48,448,402 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO MIM:301044 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G SUMF1 sulfatase modifying factor 1 IAGP HPO MIM:272200 NCBI chr 3:4,034,486...4,467,269
Ensembl chr 3:3,700,814...4,467,273 		JBrowse link
G TAF6 TATA-box binding protein associated factor 6 IAGP HPO MIM:617126 NCBI chr 7:100,107,070...100,127,171
Ensembl chr 7:100,106,876...100,119,841 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP HPO MIM:217095 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TNNT3 troponin T3, fast skeletal type IAGP HPO MIM:618435 NCBI chr11:1,919,552...1,938,702
Ensembl chr11:1,919,703...1,938,706 		JBrowse link
G TRPM3 transient receptor potential cation channel subfamily M member 3 IAGP HPO MIM:620224 NCBI chr 9:70,529,060...71,446,971
Ensembl chr 9:70,529,060...71,446,977 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IAGP HPO MIM:180750 NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636 		JBrowse link
G UBAP2L ubiquitin associated protein 2 like IAGP HPO MIM:620494 NCBI chr 1:154,220,172...154,271,510
Ensembl chr 1:154,220,179...154,271,510 		JBrowse link
G UBE2A ubiquitin conjugating enzyme E2 A IAGP HPO MIM:300860 NCBI chr  X:119,574,563...119,584,423
Ensembl chr  X:119,474,802...119,591,083 		JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked IAGP HPO MIM:300919 NCBI chr  X:41,085,445...41,236,579
Ensembl chr  X:41,085,445...41,236,579 		JBrowse link
G WDPCP WD repeat containing planar cell polarity effector IAGP HPO MIM:217085 NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO ORPHA:261537 ORPHA:261552 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
G ZMIZ1 zinc finger MIZ-type containing 1 IAGP HPO MIM: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 73980
    Phenotypic abnormality 73674
      Abnormality of limbs 3147
        Abnormality of the lower limb 2184
          Abnormal foot morphology 1564
            Abnormal toe morphology 740
              Broad toe 87
                Broad 2nd toe 3
                Broad 3rd toe 0
                Broad 4th toe 0
                Broad 5th toe 0
                Broad hallux + 76
Path 2
Term Annotations click to browse term
  Human phenotype 73980
    Phenotypic abnormality 73674
      Abnormality of the musculoskeletal system 9766
        Abnormality of the skeletal system 8651
          Abnormal skeletal morphology 8067
            Abnormal appendicular skeleton morphology 2150
              Abnormal limb bone morphology 1983
                Abnormal digit morphology 1704
                  Abnormal toe morphology 740
                    Broad toe 87
                      Broad 2nd toe 3
                      Broad 3rd toe 0
                      Broad 4th toe 0
                      Broad 5th toe 0
                      Broad hallux + 76
paths to the root