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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:Postaxial foot polydactyly
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Accession:HP:0001830 term browser browse the term
Definition:Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.
Comment:The modifier postaxial means that the supernumerary digit is not a hallux.
Synonyms:exact_synonym: Extra toe attached near the little toe;   Polydactyly affecting the 5th toe;   Postaxial polydactyly of feet;   Postaxial polydactyly of foot;   Posterior polydactyly of foot
 related_synonym: Fibular polydactyly
 alt_id: HP:0010346
 xref: UMLS:C2112129;   UMLS:C4020865


show annotations for term's descendants           Sort by:
Postaxial foot polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARL6 ARF like GTPase 6 IAGP HPO PMID:34262361 MIM:209900 NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229 		JBrowse link
G B9D1 B9 domain containing 1 IAGP HPO ORPHA:564 NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193 		JBrowse link
G B9D2 B9 domain containing 2 IAGP HPO PMID:31411728 MIM:614175 ORPHA:564 NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165 		JBrowse link
G BBS1 Bardet-Biedl syndrome 1 IAGP HPO PMID:34262361 MIM:209900 NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,630 		JBrowse link
G BBS12 Bardet-Biedl syndrome 12 IAGP HPO PMID:20827784 MIM:615989 NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942 		JBrowse link
G BBS2 Bardet-Biedl syndrome 2 IAGP HPO PMID:11285252 PMID:20618352 PMID:26078953 PMID:33688495 MIM:615981 NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667 		JBrowse link
G BBS9 Bardet-Biedl syndrome 9 IAGP HPO PMID:34212515 MIM:615986 NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180 		JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP HPO ORPHA:139471 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G C2CD3 C2 domain containing 3 centriole elongation regulator IAGP HPO ORPHA:434179 NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO PMID:18513680 MIM:612284 ORPHA:564 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,602,097 		JBrowse link
G CCDC28B coiled-coil domain containing 28B IAGP HPO PMID:34262361 MIM:209900 NCBI chr 1:32,196,011...32,205,387
Ensembl chr 1:32,200,383...32,205,453 		JBrowse link
G CD96 CD96 molecule IAGP HPO MIM:211750 NCBI chr 3:111,542,197...111,665,996
Ensembl chr 3:111,292,719...111,665,996 		JBrowse link
G CEP120 centrosomal protein 120 IAGP HPO ORPHA:474 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592 		JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO ORPHA:564 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CIBAR1 CBY1 interacting BAR domain containing 1 IAGP HPO PMID:30395363 MIM:618219 NCBI chr 8:93,700,550...93,731,527
Ensembl chr 8:93,698,561...93,731,527 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:564 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,381...67,196,778 		JBrowse link
G DDX59 DEAD-box helicase 59 IAGP HPO PMID:23972372 MIM:174300 ORPHA:2919 NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,670,049 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO PMID:10807690 MIM:270400 ORPHA:818 NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP HPO ORPHA:474 NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863 		JBrowse link
G DYNC2I1 dynein 2 intermediate chain 1 IAGP HPO ORPHA:474 NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747 		JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 IAGP HPO ORPHA:474 NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,646...128,656,847 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP HPO ORPHA:474 NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,012 		JBrowse link
G DYNLT2B dynein light chain Tctex-type 2B IAGP HPO PMID:26044572 MIM:617405 NCBI chr 3:196,291,219...196,318,240
Ensembl chr 3:196,291,219...196,318,310 		JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP HPO MIM:193530 MIM:225500 NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305 		JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP HPO MIM:193530 MIM:225500 NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548 		JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP HPO ORPHA:508533 NCBI chr 8:28,607,736...28,756,562
Ensembl chr 8:28,600,469...28,756,561 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO PMID:9042919 PMID:24736735 MIM:146510 MIM:174200 MIM:175700 ORPHA:380 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,265 		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 IFT140 intraflagellar transport 140 IAGP HPO ORPHA:474 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,075 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO ORPHA:474 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,836 		JBrowse link
G IFT27 intraflagellar transport 27 IAGP HPO PMID:30761183 MIM:615996 NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,309 		JBrowse link
G IFT74 intraflagellar transport 74 IAGP HPO PMID:32144365 MIM:617119 NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134 		JBrowse link
G IFT80 intraflagellar transport 80 IAGP HPO ORPHA:474 NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,400,357 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP HPO MIM:213300 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,618...136,439,882 		JBrowse link
G IQCE IQ motif containing E IAGP HPO PMID:28488682 MIM:617642 NCBI chr 7:2,558,979...2,614,728
Ensembl chr 7:2,558,972...2,614,733 		JBrowse link
G KIAA0753 KIAA0753 IAGP HPO ORPHA:474 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711 		JBrowse link
G KIAA0825 KIAA0825 IAGP HPO PMID:30982135 MIM:618498 NCBI chr 5:94,150,851...94,618,604
Ensembl chr 5:94,150,851...94,618,604 		JBrowse link
G KIF7 kinesin family member 7 IAGP ClinVar Annotator: match by term: Postaxial foot polydactyly ClinVar
HPO		 PMID:19619433 PMID:21552264 PMID:25741868 PMID:28492532 PMID:29286531 MIM:200990 MIM:614120 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,098 		JBrowse link
G LBR lamin B receptor IAGP HPO PMID:14684697 PMID:18382993 MIM:215140 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,400,900...225,428,925 		JBrowse link
G LZTFL1 leucine zipper transcription factor like 1 IAGP HPO PMID:23692385 MIM:615994 NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042 		JBrowse link
G MAX MYC associated factor X IAGP HPO PMID:38141607 MIM:620712 NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695 		JBrowse link
G MKKS MKKS centrosomal shuttling protein IAGP HPO ORPHA:2473 NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO PMID:17377820 MIM:249000 ORPHA:564 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,350...58,219,605 		JBrowse link
G NEK1 NIMA related kinase 1 IAGP HPO MIM:252100 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,644 		JBrowse link
G NPHP3 nephrocystin 3 IAGP HPO PMID:18371931 MIM:267010 NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO PMID:19800048 MIM:300804 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,675...13,777,955 		JBrowse link
G OTUD5 OTU deubiquitinase 5 IAGP HPO PMID:33523931 MIM:301056 NCBI chr  X:48,922,024...48,958,381
Ensembl chr  X:48,922,024...48,958,386 		JBrowse link
G PDE6D phosphodiesterase 6D IAGP HPO PMID:24166846 PMID:30423442 MIM:615665 NCBI chr 2:231,732,433...231,781,282
Ensembl chr 2:231,732,354...231,786,272 		JBrowse link
G PLAA phospholipase A2 activating protein IAGP HPO ORPHA:521426 NCBI chr 9:26,903,372...26,947,242
Ensembl chr 9:26,903,372...26,947,490 		JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta IAGP HPO PMID:33058759 MIM:619143 NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498 		JBrowse link
G RAB34 RAB34, member RAS oncogene family IAGP HPO PMID:37384395 PMID:37619988 MIM:620718 NCBI chr17:28,714,281...28,718,428
Ensembl chr17:28,713,545...28,719,594 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 IAGP HPO ORPHA:564 NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP HPO PMID:17558409 MIM:611561 ORPHA:564 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G SC5D sterol-C5-desaturase IAGP HPO PMID:12812989 PMID:17853487 MIM:607330 ORPHA:46059 NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410 		JBrowse link
G SCNM1 sodium channel modifier 1 IAGP HPO PMID:36084634 MIM:620107 NCBI chr 1:151,166,144...151,170,296
Ensembl chr 1:151,156,664...151,170,296 		JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO PMID:30497210 MIM:241800 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,511...129,213,546 		JBrowse link
G SMOC1 SPARC related modular calcium binding 1 IAGP HPO MIM:206920 ORPHA:1106 NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO PMID:28965847 MIM:617757 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,952...102,633,535 		JBrowse link
G TCTN1 tectonic family member 1 IAGP HPO ORPHA:564 NCBI chr12:110,614,129...110,649,430
Ensembl chr12:110,614,027...110,663,431 		JBrowse link
G TCTN2 tectonic family member 2 IAGP HPO PMID:25118024 MIM:616654 ORPHA:564 NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO ORPHA:564 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TMEM107 transmembrane protein 107 IAGP HPO PMID:26518474 MIM:617563 ORPHA:564 NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,405 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO PMID:20036350 MIM:608091 ORPHA:564 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TMEM231 transmembrane protein 231 IAGP HPO ORPHA:564 NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289 		JBrowse link
G TMEM237 transmembrane protein 237 IAGP HPO ORPHA:564 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO PMID:17377820 MIM:607361 ORPHA:564 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP HPO ORPHA:474 NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851 		JBrowse link
G TTC8 tetratricopeptide repeat domain 8 IAGP ClinVar Annotator: match by term: Posterior polydactyly of foot ClinVar PMID:9536098 PMID:16308660 PMID:17576681 PMID:20177705 PMID:21044901 More... NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078 		JBrowse link
G TXNDC15 thioredoxin domain containing 15 IAGP HPO PMID:30851085 MIM:619879 ORPHA:564 NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,318...134,901,635 		JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO ORPHA:474 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,494...39,285,810 		JBrowse link
G ZNF141 zinc finger protein 141 IAGP HPO PMID:23160277 MIM:615226 NCBI chr 4:337,814...384,868
Ensembl chr 4:337,800...384,868 		JBrowse link
Postaxial polysyndactyly of foot term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDX59 DEAD-box helicase 59 IAGP HPO ORPHA:2919 NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,670,049 		JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP DNA:deletion:cds:c.731_757(human) RGD PMID:34037314 RGD:155260285 NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305 		JBrowse link
G NEK1 NIMA related kinase 1 IAGP HPO MIM:263520 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,644 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 94017
    Phenotypic abnormality 93606
      Abnormality of limbs 3772
        Abnormality of the lower limb 2851
          Abnormal foot morphology 1849
            Abnormal toe morphology 1159
              Abnormal fifth toe morphology 95
                Postaxial foot polydactyly 71
                  Postaxial polysyndactyly of foot 3
Path 2
Term Annotations click to browse term
  Human phenotype 94017
    Phenotypic abnormality 93606
      Abnormality of the musculoskeletal system 15681
        Abnormality of the skeletal system 12026
          Abnormal skeletal morphology 10535
            Abnormal appendicular skeleton morphology 2285
              Abnormal limb bone morphology 2128
                Abnormal digit morphology 1925
                  Abnormal toe morphology 1159
                    Foot polydactyly 135
                      Postaxial foot polydactyly 71
                        Postaxial polysyndactyly of foot 3
paths to the root