Human Phenotype Ontology 
Grandparent Node:
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Abnormal digit morphology (HP:0011297)help
Parent Node:
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Abnormality of toe (HP:0001780)help
Parent Node:
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Duplication involving bones of the feet (HP:0009136)help
Parent Node:
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Polydactyly (HP:0010442)help
..Starting node
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Foot polydactyly (HP:0001829)help
Term ID: 1829
Name: Foot polydactyly
Synonym: Duplication of bones of the toes; Polydactyly of feet; Polydactyly of the foot
Definition: A kind of polydactyly characterized by the presence of a supernumerary toe or toes.
Comments:
Reference: HP:0001829
Genes and Diseases:
 
       Child Nodes:
........expandPostaxial foot polydactyly (HP:0001830) help
................... HP:0005817 Postaxial polysyndactyly of foot
........expandPreaxial foot polydactyly (HP:0001841) help
................... HP:0005873 Polysyndactyly of hallux
........expandMesoaxial foot polydactyly (HP:0010112) help
................... HP:0010328 Polydactyly affecting the 2nd toe
................... HP:0010334 Polydactyly affecting the 3rd toe
................... HP:0010340 Polydactyly affecting the 4th toe
........expandEctopic accesory toe-like appendage (HP:0010440) help
........expandMirror image foot polydactyly (HP:0010691) help

 Sister Nodes: 
..expandHand polydactyly (HP:0001161) help
..expandMesoaxial polydactyly (HP:0100260) help
..expandMirror image polydactyly (HP:0010689) help
..expandPostaxial polydactyly (HP:0100259) help
..expandPreaxial polydactyly (HP:0100258) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001829HP:0001829Foot polydactyly0ABCA12 CL E G H2615414637ORPHA:457Harlequin ichthyosisHP:0040283 - Occasional130
HP:0001829HP:0001829Foot polydactyly0AHI1 CL E G H5480621575ORPHA:475Joubert syndromeHP:0040283 - Occasional175
HP:0001829HP:0001829Foot polydactyly0AHI1 CL E G H5480621575ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional175
HP:0001829HP:0001829Foot polydactyly0ARL13B CL E G H20089425419ORPHA:475Joubert syndromeHP:0040283 - Occasional62
HP:0001829HP:0001829Foot polydactyly0ARL3 CL E G H403694ORPHA:475Joubert syndromeHP:0040283 - Occasional1
HP:0001829HP:0001829Foot polydactyly0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 1.29
HP:0001829HP:0001829Foot polydactyly0ARMC9 CL E G H8021020730ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0001829HP:0001829Foot polydactyly0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0001829HP:0001829Foot polydactyly0B9D1 CL E G H2707724123ORPHA:475Joubert syndromeHP:0040283 - Occasional28
HP:0001829HP:0001829Foot polydactyly0B9D1 CL E G H2707724123ORPHA:564Meckel syndrome28
HP:0001829HP:0001829Foot polydactyly0B9D2 CL E G H8077628636ORPHA:475Joubert syndromeHP:0040283 - Occasional34
HP:0001829HP:0001829Foot polydactyly0B9D2 CL E G H8077628636ORPHA:564Meckel syndrome34
HP:0001829HP:0001829Foot polydactyly0B9D2 CL E G H8077628636OMIM:614175Meckel syndrome, type 1034
HP:0001829HP:0001829Foot polydactyly0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1.114
HP:0001829HP:0001829Foot polydactyly0BBS2 CL E G H583967OMIM:615981Bardet-Biedl syndrome 297
HP:0001829HP:0001829Foot polydactyly0BBS9 CL E G H2724130000OMIM:615986BARDET-BIEDL SYNDROME 9; BBS9119
HP:0001829HP:0001829Foot polydactyly0BMP4 CL E G H6521071ORPHA:139471Microphthalmia with brain and digit anomalies38
HP:0001829HP:0001829Foot polydactyly0C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 1427
HP:0001829HP:0001829Foot polydactyly0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional3
HP:0001829HP:0001829Foot polydactyly0CBY1 CL E G H257761307ORPHA:475Joubert syndromeHP:0040283 - Occasional1
HP:0001829HP:0001829Foot polydactyly0CC2D2A CL E G H5754529253ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional247
HP:0001829HP:0001829Foot polydactyly0CC2D2A CL E G H5754529253ORPHA:564Meckel syndrome247
HP:0001829HP:0001829Foot polydactyly0CC2D2A CL E G H5754529253OMIM:612284Meckel syndrome, type 6247
HP:0001829HP:0001829Foot polydactyly0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 1.4
HP:0001829HP:0001829Foot polydactyly0CD96 CL E G H1022516892OMIM:211750C syndrome83
HP:0001829HP:0001829Foot polydactyly0CEP104 CL E G H973124866ORPHA:475Joubert syndromeHP:0040283 - Occasional5
HP:0001829HP:0001829Foot polydactyly0CEP120 CL E G H15324126690ORPHA:474Jeune syndrome7
HP:0001829HP:0001829Foot polydactyly0CEP120 CL E G H15324126690ORPHA:475Joubert syndromeHP:0040283 - Occasional7
HP:0001829HP:0001829Foot polydactyly0CEP120 CL E G H15324126690ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional7
HP:0001829HP:0001829Foot polydactyly0CEP290 CL E G H8018429021ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional342
HP:0001829HP:0001829Foot polydactyly0CEP290 CL E G H8018429021ORPHA:564Meckel syndrome342
HP:0001829HP:0001829Foot polydactyly0CEP41 CL E G H9568112370ORPHA:475Joubert syndromeHP:0040283 - Occasional90
HP:0001829HP:0001829Foot polydactyly0CEP41 CL E G H9568112370ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional90
HP:0001829HP:0001829Foot polydactyly0CIBAR1 CL E G H13739230452OMIM:618219POLYDACTYLY, POSTAXIAL, TYPE A9; PAPA9
HP:0001829HP:0001829Foot polydactyly0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0001829HP:0001829Foot polydactyly0CPLANE1 CL E G H6525025801ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0001829HP:0001829Foot polydactyly0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional
HP:0001829HP:0001829Foot polydactyly0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0001829HP:0001829Foot polydactyly0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0001829HP:0001829Foot polydactyly0CSPP1 CL E G H7984826193ORPHA:475Joubert syndromeHP:0040283 - Occasional57
HP:0001829HP:0001829Foot polydactyly0CSPP1 CL E G H7984826193ORPHA:564Meckel syndrome57
HP:0001829HP:0001829Foot polydactyly0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0001829HP:0001829Foot polydactyly0DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 52
HP:0001829HP:0001829Foot polydactyly0DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0001829HP:0001829Foot polydactyly0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0001829HP:0001829Foot polydactyly0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndrome159
HP:0001829HP:0001829Foot polydactyly0DYNC2H1 CL E G H796592962ORPHA:474Jeune syndrome304
HP:0001829HP:0001829Foot polydactyly0DYNC2I1 CL E G H5511221862ORPHA:474Jeune syndrome
HP:0001829HP:0001829Foot polydactyly0DYNC2I2 CL E G H8989128296ORPHA:474Jeune syndrome
HP:0001829HP:0001829Foot polydactyly0DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent7
HP:0001829HP:0001829Foot polydactyly0DYNC2LI1 CL E G H5162624595ORPHA:474Jeune syndrome7
HP:0001829HP:0001829Foot polydactyly0DYNLT2B CL E G H25575828482OMIM:617405Short-Rib thoracic dysplasia 17 with or without polydactyly
HP:0001829HP:0001829Foot polydactyly0EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent209
HP:0001829HP:0001829Foot polydactyly0EVC CL E G H21213497OMIM:225500Ellis-Van creveld syndrome209
HP:0001829HP:0001829Foot polydactyly0EVC CL E G H21213497OMIM:193530Weyers acrofacial dysostosis209
HP:0001829HP:0001829Foot polydactyly0EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent137
HP:0001829HP:0001829Foot polydactyly0EVC2 CL E G H13288419747OMIM:225500Ellis-Van creveld syndrome137
HP:0001829HP:0001829Foot polydactyly0EVC2 CL E G H13288419747OMIM:193530Weyers acrofacial dysostosis137
HP:0001829HP:0001829Foot polydactyly0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome3
HP:0001829HP:0001829Foot polydactyly0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional
HP:0001829HP:0001829Foot polydactyly0FGFR2 CL E G H22633689ORPHA:1540Jackson-Weiss syndrome175
HP:0001829HP:0001829Foot polydactyly0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0001829HP:0001829Foot polydactyly0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional10
HP:0001829HP:0001829Foot polydactyly0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0001829HP:0001829Foot polydactyly0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0001829HP:0001829Foot polydactyly0GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent1
HP:0001829HP:0001829Foot polydactyly0GLI3 CL E G H27374319ORPHA:380Greig cephalopolysyndactyly syndrome270
HP:0001829HP:0001829Foot polydactyly0GLI3 CL E G H27374319OMIM:175700Greig cephalopolysyndactyly syndrome270
HP:0001829HP:0001829Foot polydactyly0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0001829HP:0001829Foot polydactyly0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0001829HP:0001829Foot polydactyly0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0001829HP:0001829Foot polydactyly0HOXD13 CL E G H32395136OMIM:186000Synpolydactyly 125
HP:0001829HP:0001829Foot polydactyly0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional345
HP:0001829HP:0001829Foot polydactyly0HYLS1 CL E G H21984426558ORPHA:475Joubert syndromeHP:0040283 - Occasional31
HP:0001829HP:0001829Foot polydactyly0IFT140 CL E G H974229077ORPHA:474Jeune syndrome148
HP:0001829HP:0001829Foot polydactyly0IFT172 CL E G H2616030391OMIM:619471BARDET-BIEDL SYNDROME 20; BBS2048
HP:0001829HP:0001829Foot polydactyly0IFT172 CL E G H2616030391ORPHA:474Jeune syndrome48
HP:0001829HP:0001829Foot polydactyly0IFT74 CL E G H8017321424OMIM:617119BARDET-BIEDL SYNDROME 20; BBS203
HP:0001829HP:0001829Foot polydactyly0IFT80 CL E G H5756029262ORPHA:474Jeune syndrome65
HP:0001829HP:0001829Foot polydactyly0INPP5E CL E G H5662321474ORPHA:475Joubert syndromeHP:0040283 - Occasional111
HP:0001829HP:0001829Foot polydactyly0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0001829HP:0001829Foot polydactyly0INPP5E CL E G H5662321474ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional111
HP:0001829HP:0001829Foot polydactyly0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0001829HP:0001829Foot polydactyly0KATNIP CL E G H2324729068ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0001829HP:0001829Foot polydactyly0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional1
HP:0001829HP:0001829Foot polydactyly0KIAA0586 CL E G H978619960ORPHA:475Joubert syndromeHP:0040283 - Occasional24
HP:0001829HP:0001829Foot polydactyly0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional4
HP:0001829HP:0001829Foot polydactyly0KIAA0825 CL E G H28560028532OMIM:618498Polydactyly, postaxial, type A10
HP:0001829HP:0001829Foot polydactyly0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0001829HP:0001829Foot polydactyly0KIF7 CL E G H37465430497OMIM:614120Hydrolethalus syndrome 2167
HP:0001829HP:0001829Foot polydactyly0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional167
HP:0001829HP:0001829Foot polydactyly0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0001829HP:0001829Foot polydactyly0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0001829HP:0001829Foot polydactyly0LMBR1 CL E G H6432713243ORPHA:2378Laurin-Sandrow syndrome106
HP:0001829HP:0001829Foot polydactyly0LMBR1 CL E G H6432713243OMIM:174500Polydactyly, preaxial II106
HP:0001829HP:0001829Foot polydactyly0LMBR1 CL E G H6432713243ORPHA:93405Syndactyly type 4HP:0040282 - Frequent106
HP:0001829HP:0001829Foot polydactyly0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0001829HP:0001829Foot polydactyly0LZTFL1 CL E G H545856741OMIM:615994BARDET-BIEDL SYNDROME 17; BBS174
HP:0001829HP:0001829Foot polydactyly0MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0001829HP:0001829Foot polydactyly0MEGF8 CL E G H19543233ORPHA:65759Carpenter syndrome13
HP:0001829HP:0001829Foot polydactyly0MKKS CL E G H81957108ORPHA:2473McKusick-Kaufman syndrome69
HP:0001829HP:0001829Foot polydactyly0MKS1 CL E G H549037121ORPHA:475Joubert syndromeHP:0040283 - Occasional127
HP:0001829HP:0001829Foot polydactyly0MKS1 CL E G H549037121ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional127
HP:0001829HP:0001829Foot polydactyly0MKS1 CL E G H549037121ORPHA:564Meckel syndrome127
HP:0001829HP:0001829Foot polydactyly0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1.127
HP:0001829HP:0001829Foot polydactyly0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0001829HP:0001829Foot polydactyly0NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2101
HP:0001829HP:0001829Foot polydactyly0NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly101
HP:0001829HP:0001829Foot polydactyly0NPHP3 CL E G H270317907OMIM:267010MECKEL SYNDROME, TYPE 7; MKS7157
HP:0001829HP:0001829Foot polydactyly0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0001829HP:0001829Foot polydactyly0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040282 - Frequent201
HP:0001829HP:0001829Foot polydactyly0OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional201
HP:0001829HP:0001829Foot polydactyly0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001829HP:0001829Foot polydactyly0PDE6D CL E G H51478788OMIM:615665Joubert syndrome 221
HP:0001829HP:0001829Foot polydactyly0PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional1
HP:0001829HP:0001829Foot polydactyly0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0001829HP:0001829Foot polydactyly0PIBF1 CL E G H1046423352ORPHA:475Joubert syndromeHP:0040283 - Occasional4
HP:0001829HP:0001829Foot polydactyly0PIK3CA CL E G H52908975ORPHA:276280Hemihyperplasia-multiple lipomatosis syndromeHP:0040283 - Occasional162
HP:0001829HP:0001829Foot polydactyly0PIK3CA CL E G H52908975ORPHA:60040Megalencephaly-capillary malformation-polymicrogyria syndromeHP:0040281 - Very frequent162
HP:0001829HP:0001829Foot polydactyly0PITX1 CL E G H53079004OMIM:119800CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF8
HP:0001829HP:0001829Foot polydactyly0PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorder3
HP:0001829HP:0001829Foot polydactyly0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0001829HP:0001829Foot polydactyly0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional148
HP:0001829HP:0001829Foot polydactyly0PRKACA CL E G H55669380ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent2
HP:0001829HP:0001829Foot polydactyly0PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0001829HP:0001829Foot polydactyly0PRKACB CL E G H55679381ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent2
HP:0001829HP:0001829Foot polydactyly0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0001829HP:0001829Foot polydactyly0RAB23 CL E G H5171514263ORPHA:65759Carpenter syndrome31
HP:0001829HP:0001829Foot polydactyly0RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0001829HP:0001829Foot polydactyly0RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional16
HP:0001829HP:0001829Foot polydactyly0RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndrome109
HP:0001829HP:0001829Foot polydactyly0RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndrome167
HP:0001829HP:0001829Foot polydactyly0RPGRIP1L CL E G H2332229168OMIM:611561Meckel syndrome, type 5167
HP:0001829HP:0001829Foot polydactyly0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0001829HP:0001829Foot polydactyly0SC5D CL E G H630910547ORPHA:46059Lathosterolosis80
HP:0001829HP:0001829Foot polydactyly0SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS80
HP:0001829HP:0001829Foot polydactyly0SCNM1 CL E G H7900523136OMIM:620107
HP:0001829HP:0001829Foot polydactyly0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0001829HP:0001829Foot polydactyly0SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency43
HP:0001829HP:0001829Foot polydactyly0SHH CL E G H646910848ORPHA:93405Syndactyly type 4HP:0040282 - Frequent67
HP:0001829HP:0001829Foot polydactyly0SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional150
HP:0001829HP:0001829Foot polydactyly0SMO CL E G H660811119ORPHA:1553Curry-Jones syndromeHP:0040282 - Frequent22
HP:0001829HP:0001829Foot polydactyly0SMO CL E G H660811119OMIM:601707Curry-Jones syndrome22
HP:0001829HP:0001829Foot polydactyly0SMO CL E G H660811119OMIM:241800Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included22
HP:0001829HP:0001829Foot polydactyly0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomalies15
HP:0001829HP:0001829Foot polydactyly0SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies15
HP:0001829HP:0001829Foot polydactyly0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional4
HP:0001829HP:0001829Foot polydactyly0SUFU CL E G H5168416466ORPHA:475Joubert syndromeHP:0040283 - Occasional124
HP:0001829HP:0001829Foot polydactyly0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional32
HP:0001829HP:0001829Foot polydactyly0TCTN1 CL E G H7960026113ORPHA:475Joubert syndromeHP:0040283 - Occasional45
HP:0001829HP:0001829Foot polydactyly0TCTN1 CL E G H7960026113ORPHA:564Meckel syndrome45
HP:0001829HP:0001829Foot polydactyly0TCTN2 CL E G H7986725774ORPHA:475Joubert syndromeHP:0040283 - Occasional76
HP:0001829HP:0001829Foot polydactyly0TCTN2 CL E G H7986725774ORPHA:564Meckel syndrome76
HP:0001829HP:0001829Foot polydactyly0TCTN3 CL E G H2612324519ORPHA:564Meckel syndrome31
HP:0001829HP:0001829Foot polydactyly0TCTN3 CL E G H2612324519OMIM:258860Orofaciodigital syndrome IV.31
HP:0001829HP:0001829Foot polydactyly0TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional31
HP:0001829HP:0001829Foot polydactyly0TFAP2B CL E G H702111743ORPHA:46627Char syndrome104
HP:0001829HP:0001829Foot polydactyly0TMEM107 CL E G H8431428128ORPHA:564Meckel syndrome4
HP:0001829HP:0001829Foot polydactyly0TMEM107 CL E G H8431428128OMIM:617563Orofaciodigital syndrome XVI4
HP:0001829HP:0001829Foot polydactyly0TMEM138 CL E G H5152426944ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional39
HP:0001829HP:0001829Foot polydactyly0TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 245
HP:0001829HP:0001829Foot polydactyly0TMEM216 CL E G H5125925018ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional45
HP:0001829HP:0001829Foot polydactyly0TMEM216 CL E G H5125925018ORPHA:564Meckel syndrome45
HP:0001829HP:0001829Foot polydactyly0TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional45
HP:0001829HP:0001829Foot polydactyly0TMEM218 CL E G H21985427344ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0001829HP:0001829Foot polydactyly0TMEM231 CL E G H7958337234ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional33
HP:0001829HP:0001829Foot polydactyly0TMEM231 CL E G H7958337234ORPHA:564Meckel syndrome33
HP:0001829HP:0001829Foot polydactyly0TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 333
HP:0001829HP:0001829Foot polydactyly0TMEM237 CL E G H6506214432ORPHA:475Joubert syndromeHP:0040283 - Occasional82
HP:0001829HP:0001829Foot polydactyly0TMEM237 CL E G H6506214432ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional82
HP:0001829HP:0001829Foot polydactyly0TMEM237 CL E G H6506214432ORPHA:564Meckel syndrome82
HP:0001829HP:0001829Foot polydactyly0TMEM67 CL E G H9114728396ORPHA:475Joubert syndromeHP:0040283 - Occasional166
HP:0001829HP:0001829Foot polydactyly0TMEM67 CL E G H9114728396ORPHA:564Meckel syndrome166
HP:0001829HP:0001829Foot polydactyly0TMEM67 CL E G H9114728396OMIM:607361Meckel syndrome 3166
HP:0001829HP:0001829Foot polydactyly0TOGARAM1 CL E G H2311619959ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0001829HP:0001829Foot polydactyly0TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional61
HP:0001829HP:0001829Foot polydactyly0TTC21B CL E G H7980925660ORPHA:474Jeune syndrome132
HP:0001829HP:0001829Foot polydactyly0TXNDC15 CL E G H7977020652OMIM:6198792
HP:0001829HP:0001829Foot polydactyly0TXNDC15 CL E G H7977020652ORPHA:564Meckel syndrome2
HP:0001829HP:0001829Foot polydactyly0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0001829HP:0001829Foot polydactyly0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0001829HP:0001829Foot polydactyly0WDR19 CL E G H5772818340ORPHA:474Jeune syndrome95
HP:0001829HP:0001829Foot polydactyly0ZNF141 CL E G H770012926OMIM:615226Polydactyly, postaxial, type A63
HP:0001829HP:0001829Foot polydactyly0ZNF423 CL E G H2309016762ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional49
HP:0001829HP:0001829Foot polydactyly0ZSWIM6 CL E G H5768829316ORPHA:1827Acromelic frontonasal dysplasia5
HP:0001829HP:0010440Ectopic accesory toe-like appendage1 CL E G H
HP:0001829HP:0001830Postaxial foot polydactyly1ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0001829HP:0001830Postaxial foot polydactyly1B9D1 CL E G H2707724123ORPHA:564Meckel syndromeHP:0040281 - Very frequent28
HP:0001829HP:0001830Postaxial foot polydactyly1B9D2 CL E G H8077628636ORPHA:564Meckel syndromeHP:0040281 - Very frequent34
HP:0001829HP:0001830Postaxial foot polydactyly1B9D2 CL E G H8077628636OMIM:614175Meckel syndrome, type 1034
HP:0001829HP:0001830Postaxial foot polydactyly1BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0001829HP:0001830Postaxial foot polydactyly1BBS2 CL E G H583967OMIM:615981Bardet-Biedl syndrome 297
HP:0001829HP:0001830Postaxial foot polydactyly1BBS9 CL E G H2724130000OMIM:615986BARDET-BIEDL SYNDROME 9; BBS9119
HP:0001829HP:0001830Postaxial foot polydactyly1BMP4 CL E G H6521071ORPHA:139471Microphthalmia with brain and digit anomaliesHP:0040283 - Occasional38
HP:0001829HP:0001830Postaxial foot polydactyly1C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 14HP:0040282 - Frequent27
HP:0001829HP:0001830Postaxial foot polydactyly1CC2D2A CL E G H5754529253ORPHA:564Meckel syndromeHP:0040281 - Very frequent247
HP:0001829HP:0001830Postaxial foot polydactyly1CC2D2A CL E G H5754529253OMIM:612284Meckel syndrome, type 6247
HP:0001829HP:0001830Postaxial foot polydactyly1CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0001829HP:0001830Postaxial foot polydactyly1CD96 CL E G H1022516892OMIM:211750C syndrome.83
HP:0001829HP:0001830Postaxial foot polydactyly1CEP120 CL E G H15324126690ORPHA:474Jeune syndromeHP:0040283 - Occasional7
HP:0001829HP:0001830Postaxial foot polydactyly1CEP290 CL E G H8018429021ORPHA:564Meckel syndromeHP:0040281 - Very frequent342
HP:0001829HP:0001830Postaxial foot polydactyly1CIBAR1 CL E G H13739230452OMIM:618219POLYDACTYLY, POSTAXIAL, TYPE A9; PAPA9
HP:0001829HP:0001841Preaxial foot polydactyly1CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI.
HP:0001829HP:0001841Preaxial foot polydactyly1CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0001829HP:0001830Postaxial foot polydactyly1CSPP1 CL E G H7984826193ORPHA:564Meckel syndromeHP:0040281 - Very frequent57
HP:0001829HP:0001841Preaxial foot polydactyly1CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0001829HP:0001830Postaxial foot polydactyly1DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 5HP:0040281 - Very frequent2
HP:0001829HP:0001830Postaxial foot polydactyly1DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V.2
HP:0001829HP:0001830Postaxial foot polydactyly1DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0001829HP:0001830Postaxial foot polydactyly1DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040282 - Frequent159
HP:0001829HP:0001830Postaxial foot polydactyly1DYNC2H1 CL E G H796592962ORPHA:474Jeune syndromeHP:0040283 - Occasional304
HP:0001829HP:0001830Postaxial foot polydactyly1DYNC2I1 CL E G H5511221862ORPHA:474Jeune syndromeHP:0040283 - Occasional
HP:0001829HP:0001830Postaxial foot polydactyly1DYNC2I2 CL E G H8989128296ORPHA:474Jeune syndromeHP:0040283 - Occasional
HP:0001829HP:0001830Postaxial foot polydactyly1DYNC2LI1 CL E G H5162624595ORPHA:474Jeune syndromeHP:0040283 - Occasional7
HP:0001829HP:0001830Postaxial foot polydactyly1DYNLT2B CL E G H25575828482OMIM:617405Short-Rib thoracic dysplasia 17 with or without polydactyly
HP:0001829HP:0001830Postaxial foot polydactyly1EVC CL E G H21213497OMIM:225500Ellis-Van creveld syndrome.209
HP:0001829HP:0001830Postaxial foot polydactyly1EVC CL E G H21213497OMIM:193530Weyers acrofacial dysostosis.209
HP:0001829HP:0001830Postaxial foot polydactyly1EVC2 CL E G H13288419747OMIM:225500Ellis-Van creveld syndrome.137
HP:0001829HP:0001830Postaxial foot polydactyly1EVC2 CL E G H13288419747OMIM:193530Weyers acrofacial dysostosis.137
HP:0001829HP:0001830Postaxial foot polydactyly1EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0001829HP:0001841Preaxial foot polydactyly1FGFR2 CL E G H22633689ORPHA:1540Jackson-Weiss syndromeHP:0040283 - Occasional175
HP:0001829HP:0001841Preaxial foot polydactyly1FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0001829HP:0010112Mesoaxial foot polydactyly1GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0001829HP:0010112Mesoaxial foot polydactyly1GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0001829HP:0001841Preaxial foot polydactyly1GLI3 CL E G H27374319OMIM:175700Greig cephalopolysyndactyly syndrome270
HP:0001829HP:0001830Postaxial foot polydactyly1GLI3 CL E G H27374319ORPHA:380Greig cephalopolysyndactyly syndromeHP:0040283 - Occasional270
HP:0001829HP:0001830Postaxial foot polydactyly1GLI3 CL E G H27374319OMIM:175700Greig cephalopolysyndactyly syndrome270
HP:0001829HP:0001841Preaxial foot polydactyly1GLI3 CL E G H27374319ORPHA:380Greig cephalopolysyndactyly syndromeHP:0040281 - Very frequent270
HP:0001829HP:0010112Mesoaxial foot polydactyly1GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0001829HP:0001830Postaxial foot polydactyly1GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0001829HP:0001830Postaxial foot polydactyly1HOXD13 CL E G H32395136OMIM:186000Synpolydactyly 1.25
HP:0001829HP:0001841Preaxial foot polydactyly1HOXD13 CL E G H32395136OMIM:186000Synpolydactyly 1HP:0040283 - Occasional25
HP:0001829HP:0001830Postaxial foot polydactyly1IFT140 CL E G H974229077ORPHA:474Jeune syndromeHP:0040283 - Occasional148
HP:0001829HP:0001841Preaxial foot polydactyly1IFT172 CL E G H2616030391OMIM:619471BARDET-BIEDL SYNDROME 20; BBS2048
HP:0001829HP:0001830Postaxial foot polydactyly1IFT172 CL E G H2616030391ORPHA:474Jeune syndromeHP:0040283 - Occasional48
HP:0001829HP:0001830Postaxial foot polydactyly1IFT74 CL E G H8017321424OMIM:617119BARDET-BIEDL SYNDROME 20; BBS203
HP:0001829HP:0001830Postaxial foot polydactyly1IFT80 CL E G H5756029262ORPHA:474Jeune syndromeHP:0040283 - Occasional65
HP:0001829HP:0001830Postaxial foot polydactyly1INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1HP:0040283 - Occasional111
HP:0001829HP:0001830Postaxial foot polydactyly1KIAA0825 CL E G H28560028532OMIM:618498Polydactyly, postaxial, type A10
HP:0001829HP:0001830Postaxial foot polydactyly1KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0001829HP:0001841Preaxial foot polydactyly1KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0001829HP:0001841Preaxial foot polydactyly1KIF7 CL E G H37465430497OMIM:614120Hydrolethalus syndrome 2167
HP:0001829HP:0001830Postaxial foot polydactyly1KIF7 CL E G H37465430497OMIM:614120Hydrolethalus syndrome 2167
HP:0001829HP:0001830Postaxial foot polydactyly1LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0001829HP:0001841Preaxial foot polydactyly1LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0001829HP:0001841Preaxial foot polydactyly1LMBR1 CL E G H6432713243ORPHA:2378Laurin-Sandrow syndromeHP:0040281 - Very frequent106
HP:0001829HP:0001830Postaxial foot polydactyly1LMBR1 CL E G H6432713243OMIM:174500Polydactyly, preaxial II106
HP:0001829HP:0001841Preaxial foot polydactyly1LMBR1 CL E G H6432713243OMIM:174500Polydactyly, preaxial II106
HP:0001829HP:0001830Postaxial foot polydactyly1LZTFL1 CL E G H545856741OMIM:615994BARDET-BIEDL SYNDROME 17; BBS174
HP:0001829HP:0010112Mesoaxial foot polydactyly1MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0001829HP:0001841Preaxial foot polydactyly1MEGF8 CL E G H19543233ORPHA:65759Carpenter syndromeHP:0040282 - Frequent13
HP:0001829HP:0001830Postaxial foot polydactyly1MKKS CL E G H81957108ORPHA:2473McKusick-Kaufman syndromeHP:0040283 - Occasional69
HP:0001829HP:0001830Postaxial foot polydactyly1MKS1 CL E G H549037121ORPHA:564Meckel syndromeHP:0040281 - Very frequent127
HP:0001829HP:0001830Postaxial foot polydactyly1MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0001829HP:0001841Preaxial foot polydactyly1NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2HP:0040282 - Frequent101
HP:0001829HP:0001830Postaxial foot polydactyly1NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly101
HP:0001829HP:0001841Preaxial foot polydactyly1NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly101
HP:0001829HP:0001830Postaxial foot polydactyly1NPHP3 CL E G H270317907OMIM:267010MECKEL SYNDROME, TYPE 7; MKS7157
HP:0001829HP:0001841Preaxial foot polydactyly1NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0001829HP:0001830Postaxial foot polydactyly1OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001829HP:0001830Postaxial foot polydactyly1PDE6D CL E G H51478788OMIM:615665Joubert syndrome 221
HP:0001829HP:0001841Preaxial foot polydactyly1PITX1 CL E G H53079004OMIM:119800CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF8
HP:0001829HP:0010691Mirror image foot polydactyly1PITX1 CL E G H53079004OMIM:119800CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF8
HP:0001829HP:0001830Postaxial foot polydactyly1PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorderHP:0040282 - Frequent3
HP:0001829HP:0001830Postaxial foot polydactyly1PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0001829HP:0001841Preaxial foot polydactyly1RAB23 CL E G H5171514263ORPHA:65759Carpenter syndromeHP:0040282 - Frequent31
HP:0001829HP:0001841Preaxial foot polydactyly1RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0001829HP:0001830Postaxial foot polydactyly1RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndromeHP:0040281 - Very frequent109
HP:0001829HP:0001830Postaxial foot polydactyly1RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndromeHP:0040281 - Very frequent167
HP:0001829HP:0001830Postaxial foot polydactyly1RPGRIP1L CL E G H2332229168OMIM:611561Meckel syndrome, type 5.167
HP:0001829HP:0001830Postaxial foot polydactyly1SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS80
HP:0001829HP:0001830Postaxial foot polydactyly1SC5D CL E G H630910547ORPHA:46059LathosterolosisHP:0040281 - Very frequent80
HP:0001829HP:0001830Postaxial foot polydactyly1SCNM1 CL E G H7900523136OMIM:620107
HP:0001829HP:0001830Postaxial foot polydactyly1SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiencyHP:0040283 - Occasional43
HP:0001829HP:0001841Preaxial foot polydactyly1SMO CL E G H660811119OMIM:601707Curry-Jones syndrome22
HP:0001829HP:0001830Postaxial foot polydactyly1SMO CL E G H660811119OMIM:241800Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included22
HP:0001829HP:0001830Postaxial foot polydactyly1SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040283 - Occasional15
HP:0001829HP:0001830Postaxial foot polydactyly1SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies.15
HP:0001829HP:0001830Postaxial foot polydactyly1TCTN1 CL E G H7960026113ORPHA:564Meckel syndromeHP:0040281 - Very frequent45
HP:0001829HP:0001830Postaxial foot polydactyly1TCTN2 CL E G H7986725774ORPHA:564Meckel syndromeHP:0040281 - Very frequent76
HP:0001829HP:0001830Postaxial foot polydactyly1TCTN3 CL E G H2612324519ORPHA:564Meckel syndromeHP:0040281 - Very frequent31
HP:0001829HP:0010112Mesoaxial foot polydactyly1TFAP2B CL E G H702111743ORPHA:46627Char syndromeHP:0040283 - Occasional104
HP:0001829HP:0001830Postaxial foot polydactyly1TMEM107 CL E G H8431428128ORPHA:564Meckel syndromeHP:0040281 - Very frequent4
HP:0001829HP:0001830Postaxial foot polydactyly1TMEM107 CL E G H8431428128OMIM:617563Orofaciodigital syndrome XVI4
HP:0001829HP:0001830Postaxial foot polydactyly1TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 245
HP:0001829HP:0001830Postaxial foot polydactyly1TMEM216 CL E G H5125925018ORPHA:564Meckel syndromeHP:0040281 - Very frequent45
HP:0001829HP:0001830Postaxial foot polydactyly1TMEM231 CL E G H7958337234ORPHA:564Meckel syndromeHP:0040281 - Very frequent33
HP:0001829HP:0001830Postaxial foot polydactyly1TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 3HP:0040282 - Frequent33
HP:0001829HP:0001830Postaxial foot polydactyly1TMEM237 CL E G H6506214432ORPHA:564Meckel syndromeHP:0040281 - Very frequent82
HP:0001829HP:0001830Postaxial foot polydactyly1TMEM67 CL E G H9114728396ORPHA:564Meckel syndromeHP:0040281 - Very frequent166
HP:0001829HP:0001830Postaxial foot polydactyly1TMEM67 CL E G H9114728396OMIM:607361Meckel syndrome 3166
HP:0001829HP:0001830Postaxial foot polydactyly1TTC21B CL E G H7980925660ORPHA:474Jeune syndromeHP:0040283 - Occasional132
HP:0001829HP:0001830Postaxial foot polydactyly1TXNDC15 CL E G H7977020652OMIM:6198792
HP:0001829HP:0001830Postaxial foot polydactyly1TXNDC15 CL E G H7977020652ORPHA:564Meckel syndromeHP:0040281 - Very frequent2
HP:0001829HP:0001830Postaxial foot polydactyly1WDR19 CL E G H5772818340ORPHA:474Jeune syndromeHP:0040283 - Occasional95
HP:0001829HP:0001830Postaxial foot polydactyly1ZNF141 CL E G H770012926OMIM:615226Polydactyly, postaxial, type A63
HP:0001829HP:0001841Preaxial foot polydactyly1ZSWIM6 CL E G H5768829316ORPHA:1827Acromelic frontonasal dysplasiaHP:0040281 - Very frequent5
HP:0001829HP:0010340Polydactyly affecting the 4th toe2 CL E G H
HP:0001829HP:0010334Polydactyly affecting the 3rd toe2 CL E G H
HP:0001829HP:0010328Polydactyly affecting the 2nd toe2 CL E G H
HP:0001829HP:0005817Postaxial polysyndactyly of foot2DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 5HP:0040283 - Occasional2
HP:0001829HP:0005873Polysyndactyly of hallux2NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2HP:0040283 - Occasional101
HP:0001829HP:0005817Postaxial polysyndactyly of foot2NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly.101
HP:0001829HP:0005873Polysyndactyly of hallux2NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly.101


Genes (127) :ABCA12 AHI1 ARL13B ARL3 ARL6 ARMC9 ARVCF B9D1 B9D2 BBS1 BBS2 BBS9 BMP4 C2CD3 CASZ1 CBY1 CC2D2A CCDC28B CD96 CEP104 CEP120 CEP290 CEP41 CIBAR1 COMT CPLANE1 CPLX1 CSPP1 CTBP1 DDX59 DHCR7 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B EVC EVC2 EXTL3 FAM149B1 FGFR2 FGFRL1 GABRD GJA5 GJA8 GLI1 GLI3 GP1BB HIRA HOXD13 HSPG2 HYLS1 IFT140 IFT172 IFT74 IFT80 INPP5E JMJD1C KATNIP KCNAB2 KIAA0586 KIAA0753 KIAA0825 KIF7 LBR LETM1 LMBR1 LUZP1 LZTFL1 MAP3K20 MEGF8 MKKS MKS1 MMP23B NEK1 NPHP3 NSD2 OFD1 OTUD5 PDE6D PDPN PIBF1 PIK3CA PITX1 PLAA PORCN PRDM16 PRKACA PRKACB PRKCZ RAB23 RERE RPGRIP1 RPGRIP1L RREB1 SC5D SCNM1 SEC24C SETD5 SHH SKI SMO SMOC1 SPEN SUFU TBX1 TCTN1 TCTN2 TCTN3 TFAP2B TMEM107 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TOGARAM1 TOPORS TTC21B TXNDC15 UBE4B UFD1 WDR19 ZNF141 ZNF423 ZSWIM6

Diseases (82) :ORPHA:457 ORPHA:475 ORPHA:220493 OMIM:209900 ORPHA:567 ORPHA:564 OMIM:614175 OMIM:615981 OMIM:615986 ORPHA:139471 ORPHA:434179 ORPHA:1606 ORPHA:2318 OMIM:612284 OMIM:211750 ORPHA:474 OMIM:618219 ORPHA:2754 OMIM:277170 OMIM:194190 ORPHA:2919 OMIM:174300 OMIM:270400 ORPHA:818 ORPHA:289 OMIM:617405 OMIM:225500 OMIM:193530 ORPHA:508533 ORPHA:1540 OMIM:612474 ORPHA:380 OMIM:175700 OMIM:146510 OMIM:186000 OMIM:619471 OMIM:617119 OMIM:213300 OMIM:618498 OMIM:200990 OMIM:614120 OMIM:215140 ORPHA:2378 OMIM:174500 ORPHA:93405 OMIM:615994 ORPHA:488232 ORPHA:65759 ORPHA:2473 OMIM:249000 ORPHA:2751 OMIM:263520 OMIM:267010 ORPHA:2750 OMIM:301056 OMIM:615665 ORPHA:276280 ORPHA:60040 OMIM:119800 ORPHA:521426 OMIM:305600 OMIM:619143 OMIM:201000 OMIM:611561 ORPHA:46059 OMIM:607330 OMIM:620107 ORPHA:404440 ORPHA:1553 OMIM:601707 OMIM:241800 ORPHA:1106 OMIM:206920 OMIM:258860 ORPHA:46627 OMIM:617563 OMIM:608091 ORPHA:2752 OMIM:607361 OMIM:619879 OMIM:615226 ORPHA:1827
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.