Human Phenotype Ontology 
Grandparent Node:
expand
Polydactyly (HP:0010442)help
Parent Node:
expand
Abnormality of the 5th toe (HP:0010322)help
Parent Node:
expand
Foot polydactyly (HP:0001829)help
Parent Node:
expand
Postaxial polydactyly (HP:0100259)help
..Starting node
..expand
Postaxial foot polydactyly (HP:0001830)help
Term ID: 1830
Name: Postaxial foot polydactyly
Synonym: Extra toe attached near the little toe; Fibular polydactyly; Polydactyly affecting the 5th toe; Postaxial polydactyly of feet; Postaxial polydactyly of foot; Posterior polydactyly of foot
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.
Comments:
Reference: HP:0001830
Genes and Diseases:
 
       Child Nodes:
........expandPostaxial polysyndactyly of foot (HP:0005817) help

 Sister Nodes: 
..expandPostaxial hand polydactyly (HP:0001162) 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:0001830HP:0001830Postaxial foot polydactyly0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0001830HP:0001830Postaxial foot polydactyly0B9D1 CL E G H2707724123ORPHA:564Meckel syndromeHP:0040281 - Very frequent28
HP:0001830HP:0001830Postaxial foot polydactyly0B9D2 CL E G H8077628636ORPHA:564Meckel syndromeHP:0040281 - Very frequent34
HP:0001830HP:0001830Postaxial foot polydactyly0B9D2 CL E G H8077628636OMIM:614175Meckel syndrome, type 1034
HP:0001830HP:0001830Postaxial foot polydactyly0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0001830HP:0001830Postaxial foot polydactyly0BBS2 CL E G H583967OMIM:615981Bardet-Biedl syndrome 297
HP:0001830HP:0001830Postaxial foot polydactyly0BBS9 CL E G H2724130000OMIM:615986BARDET-BIEDL SYNDROME 9; BBS9119
HP:0001830HP:0001830Postaxial foot polydactyly0BMP4 CL E G H6521071ORPHA:139471Microphthalmia with brain and digit anomaliesHP:0040283 - Occasional38
HP:0001830HP:0001830Postaxial foot polydactyly0C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 14HP:0040282 - Frequent27
HP:0001830HP:0001830Postaxial foot polydactyly0CC2D2A CL E G H5754529253ORPHA:564Meckel syndromeHP:0040281 - Very frequent247
HP:0001830HP:0001830Postaxial foot polydactyly0CC2D2A CL E G H5754529253OMIM:612284Meckel syndrome, type 6247
HP:0001830HP:0001830Postaxial foot polydactyly0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0001830HP:0001830Postaxial foot polydactyly0CD96 CL E G H1022516892OMIM:211750C syndrome.83
HP:0001830HP:0001830Postaxial foot polydactyly0CEP120 CL E G H15324126690ORPHA:474Jeune syndromeHP:0040283 - Occasional7
HP:0001830HP:0001830Postaxial foot polydactyly0CEP290 CL E G H8018429021ORPHA:564Meckel syndromeHP:0040281 - Very frequent342
HP:0001830HP:0001830Postaxial foot polydactyly0CIBAR1 CL E G H13739230452OMIM:618219POLYDACTYLY, POSTAXIAL, TYPE A9; PAPA9
HP:0001830HP:0001830Postaxial foot polydactyly0CSPP1 CL E G H7984826193ORPHA:564Meckel syndromeHP:0040281 - Very frequent57
HP:0001830HP:0001830Postaxial foot polydactyly0DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 5HP:0040281 - Very frequent2
HP:0001830HP:0001830Postaxial foot polydactyly0DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V.2
HP:0001830HP:0001830Postaxial foot polydactyly0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0001830HP:0001830Postaxial foot polydactyly0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040282 - Frequent159
HP:0001830HP:0001830Postaxial foot polydactyly0DYNC2H1 CL E G H796592962ORPHA:474Jeune syndromeHP:0040283 - Occasional304
HP:0001830HP:0001830Postaxial foot polydactyly0DYNC2I1 CL E G H5511221862ORPHA:474Jeune syndromeHP:0040283 - Occasional
HP:0001830HP:0001830Postaxial foot polydactyly0DYNC2I2 CL E G H8989128296ORPHA:474Jeune syndromeHP:0040283 - Occasional
HP:0001830HP:0001830Postaxial foot polydactyly0DYNC2LI1 CL E G H5162624595ORPHA:474Jeune syndromeHP:0040283 - Occasional7
HP:0001830HP:0001830Postaxial foot polydactyly0DYNLT2B CL E G H25575828482OMIM:617405Short-Rib thoracic dysplasia 17 with or without polydactyly
HP:0001830HP:0001830Postaxial foot polydactyly0EVC CL E G H21213497OMIM:225500Ellis-Van creveld syndrome.209
HP:0001830HP:0001830Postaxial foot polydactyly0EVC CL E G H21213497OMIM:193530Weyers acrofacial dysostosis.209
HP:0001830HP:0001830Postaxial foot polydactyly0EVC2 CL E G H13288419747OMIM:225500Ellis-Van creveld syndrome.137
HP:0001830HP:0001830Postaxial foot polydactyly0EVC2 CL E G H13288419747OMIM:193530Weyers acrofacial dysostosis.137
HP:0001830HP:0001830Postaxial foot polydactyly0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0001830HP:0001830Postaxial foot polydactyly0GLI3 CL E G H27374319OMIM:175700Greig cephalopolysyndactyly syndrome270
HP:0001830HP:0001830Postaxial foot polydactyly0GLI3 CL E G H27374319ORPHA:380Greig cephalopolysyndactyly syndromeHP:0040283 - Occasional270
HP:0001830HP:0001830Postaxial foot polydactyly0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0001830HP:0001830Postaxial foot polydactyly0HOXD13 CL E G H32395136OMIM:186000Synpolydactyly 1.25
HP:0001830HP:0001830Postaxial foot polydactyly0IFT140 CL E G H974229077ORPHA:474Jeune syndromeHP:0040283 - Occasional148
HP:0001830HP:0001830Postaxial foot polydactyly0IFT172 CL E G H2616030391ORPHA:474Jeune syndromeHP:0040283 - Occasional48
HP:0001830HP:0001830Postaxial foot polydactyly0IFT74 CL E G H8017321424OMIM:617119BARDET-BIEDL SYNDROME 20; BBS203
HP:0001830HP:0001830Postaxial foot polydactyly0IFT80 CL E G H5756029262ORPHA:474Jeune syndromeHP:0040283 - Occasional65
HP:0001830HP:0001830Postaxial foot polydactyly0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1HP:0040283 - Occasional111
HP:0001830HP:0001830Postaxial foot polydactyly0KIAA0825 CL E G H28560028532OMIM:618498Polydactyly, postaxial, type A10
HP:0001830HP:0001830Postaxial foot polydactyly0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0001830HP:0001830Postaxial foot polydactyly0KIF7 CL E G H37465430497OMIM:614120Hydrolethalus syndrome 2167
HP:0001830HP:0001830Postaxial foot polydactyly0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0001830HP:0001830Postaxial foot polydactyly0LMBR1 CL E G H6432713243OMIM:174500Polydactyly, preaxial II106
HP:0001830HP:0001830Postaxial foot polydactyly0LZTFL1 CL E G H545856741OMIM:615994BARDET-BIEDL SYNDROME 17; BBS174
HP:0001830HP:0001830Postaxial foot polydactyly0MKKS CL E G H81957108ORPHA:2473McKusick-Kaufman syndromeHP:0040283 - Occasional69
HP:0001830HP:0001830Postaxial foot polydactyly0MKS1 CL E G H549037121ORPHA:564Meckel syndromeHP:0040281 - Very frequent127
HP:0001830HP:0001830Postaxial foot polydactyly0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0001830HP:0001830Postaxial foot polydactyly0NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly101
HP:0001830HP:0001830Postaxial foot polydactyly0NPHP3 CL E G H270317907OMIM:267010MECKEL SYNDROME, TYPE 7; MKS7157
HP:0001830HP:0001830Postaxial foot polydactyly0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001830HP:0001830Postaxial foot polydactyly0PDE6D CL E G H51478788OMIM:615665Joubert syndrome 221
HP:0001830HP:0001830Postaxial foot polydactyly0PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorderHP:0040282 - Frequent3
HP:0001830HP:0001830Postaxial foot polydactyly0PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0001830HP:0001830Postaxial foot polydactyly0RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndromeHP:0040281 - Very frequent109
HP:0001830HP:0001830Postaxial foot polydactyly0RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndromeHP:0040281 - Very frequent167
HP:0001830HP:0001830Postaxial foot polydactyly0RPGRIP1L CL E G H2332229168OMIM:611561Meckel syndrome, type 5.167
HP:0001830HP:0001830Postaxial foot polydactyly0SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS80
HP:0001830HP:0001830Postaxial foot polydactyly0SC5D CL E G H630910547ORPHA:46059LathosterolosisHP:0040281 - Very frequent80
HP:0001830HP:0001830Postaxial foot polydactyly0SCNM1 CL E G H7900523136OMIM:620107
HP:0001830HP:0001830Postaxial foot polydactyly0SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiencyHP:0040283 - Occasional43
HP:0001830HP:0001830Postaxial foot polydactyly0SMO CL E G H660811119OMIM:241800Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included22
HP:0001830HP:0001830Postaxial foot polydactyly0SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies.15
HP:0001830HP:0001830Postaxial foot polydactyly0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040283 - Occasional15
HP:0001830HP:0001830Postaxial foot polydactyly0TCTN1 CL E G H7960026113ORPHA:564Meckel syndromeHP:0040281 - Very frequent45
HP:0001830HP:0001830Postaxial foot polydactyly0TCTN2 CL E G H7986725774ORPHA:564Meckel syndromeHP:0040281 - Very frequent76
HP:0001830HP:0001830Postaxial foot polydactyly0TCTN3 CL E G H2612324519ORPHA:564Meckel syndromeHP:0040281 - Very frequent31
HP:0001830HP:0001830Postaxial foot polydactyly0TMEM107 CL E G H8431428128ORPHA:564Meckel syndromeHP:0040281 - Very frequent4
HP:0001830HP:0001830Postaxial foot polydactyly0TMEM107 CL E G H8431428128OMIM:617563Orofaciodigital syndrome XVI4
HP:0001830HP:0001830Postaxial foot polydactyly0TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 245
HP:0001830HP:0001830Postaxial foot polydactyly0TMEM216 CL E G H5125925018ORPHA:564Meckel syndromeHP:0040281 - Very frequent45
HP:0001830HP:0001830Postaxial foot polydactyly0TMEM231 CL E G H7958337234ORPHA:564Meckel syndromeHP:0040281 - Very frequent33
HP:0001830HP:0001830Postaxial foot polydactyly0TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 3HP:0040282 - Frequent33
HP:0001830HP:0001830Postaxial foot polydactyly0TMEM237 CL E G H6506214432ORPHA:564Meckel syndromeHP:0040281 - Very frequent82
HP:0001830HP:0001830Postaxial foot polydactyly0TMEM67 CL E G H9114728396ORPHA:564Meckel syndromeHP:0040281 - Very frequent166
HP:0001830HP:0001830Postaxial foot polydactyly0TMEM67 CL E G H9114728396OMIM:607361Meckel syndrome 3166
HP:0001830HP:0001830Postaxial foot polydactyly0TTC21B CL E G H7980925660ORPHA:474Jeune syndromeHP:0040283 - Occasional132
HP:0001830HP:0001830Postaxial foot polydactyly0TXNDC15 CL E G H7977020652OMIM:6198792
HP:0001830HP:0001830Postaxial foot polydactyly0TXNDC15 CL E G H7977020652ORPHA:564Meckel syndromeHP:0040281 - Very frequent2
HP:0001830HP:0001830Postaxial foot polydactyly0WDR19 CL E G H5772818340ORPHA:474Jeune syndromeHP:0040283 - Occasional95
HP:0001830HP:0001830Postaxial foot polydactyly0ZNF141 CL E G H770012926OMIM:615226Polydactyly, postaxial, type A63
HP:0001830HP:0005817Postaxial polysyndactyly of foot1DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 5HP:0040283 - Occasional2
HP:0001830HP:0005817Postaxial polysyndactyly of foot1NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly.101


Genes (64) :ARL6 B9D1 B9D2 BBS1 BBS2 BBS9 BMP4 C2CD3 CC2D2A CCDC28B CD96 CEP120 CEP290 CIBAR1 CSPP1 DDX59 DHCR7 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B EVC EVC2 EXTL3 GLI3 HOXD13 IFT140 IFT172 IFT74 IFT80 INPP5E KIAA0825 KIF7 LBR LMBR1 LZTFL1 MKKS MKS1 NEK1 NPHP3 OTUD5 PDE6D PLAA PRKACB RPGRIP1 RPGRIP1L SC5D SCNM1 SETD5 SMO SMOC1 TCTN1 TCTN2 TCTN3 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TTC21B TXNDC15 WDR19 ZNF141

Diseases (53) :OMIM:209900 ORPHA:564 OMIM:614175 OMIM:615981 OMIM:615986 ORPHA:139471 ORPHA:434179 OMIM:612284 OMIM:211750 ORPHA:474 OMIM:618219 ORPHA:2919 OMIM:174300 OMIM:270400 ORPHA:818 OMIM:617405 OMIM:225500 OMIM:193530 ORPHA:508533 OMIM:175700 ORPHA:380 OMIM:146510 OMIM:186000 OMIM:617119 OMIM:213300 OMIM:618498 OMIM:200990 OMIM:614120 OMIM:215140 OMIM:174500 OMIM:615994 ORPHA:2473 OMIM:249000 OMIM:263520 OMIM:267010 OMIM:301056 OMIM:615665 ORPHA:521426 OMIM:619143 OMIM:611561 OMIM:607330 ORPHA:46059 OMIM:620107 ORPHA:404440 OMIM:241800 OMIM:206920 ORPHA:1106 OMIM:617563 OMIM:608091 ORPHA:2752 OMIM:607361 OMIM:619879 OMIM:615226
 

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