Human Phenotype Ontology 
Grandparent Node:
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Polydactyly (HP:0010442)help
Parent Node:
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Abnormal 5th finger morphology (HP:0004207)help
Parent Node:
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Hand polydactyly (HP:0001161)help
Parent Node:
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Postaxial polydactyly (HP:0100259)help
..Starting node
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Postaxial hand polydactyly (HP:0001162)help
Term ID: 1162
Name: Postaxial hand polydactyly
Synonym: Extra little finger; Extra pinkie finger; Extra pinky finger; Polydactyly affecting the 5th finger; Postaxial polydactyly of fingers; Postaxial polydactyly of hand; Postaxial polydactyly of hands
Definition: Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Comments:
Reference: HP:0001162
Genes and Diseases:
 
       Child Nodes:
........expandRudimentary postaxial polydactyly of hands (HP:0005676) help
........expandPostaxial polydactyly type A (HP:0005696) help
........expandBilateral postaxial polydactyly (HP:0006136) help

 Sister Nodes: 
..expandPostaxial foot polydactyly (HP:0001830) 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:0001162HP:0001162Postaxial hand polydactyly0AKT3 CL E G H10000393OMIM:615937Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2.19
HP:0001162HP:0001162Postaxial hand polydactyly0AKT3 CL E G H10000393ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndromeHP:0040281 - Very frequent19
HP:0001162HP:0001162Postaxial hand polydactyly0ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 1.9
HP:0001162HP:0001162Postaxial hand polydactyly0ARL6 CL E G H8410013210ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent29
HP:0001162HP:0001162Postaxial hand polydactyly0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0001162HP:0001162Postaxial hand polydactyly0ARMC9 CL E G H8021020730OMIM:617622JOUBERT SYNDROME 30; JBTS30
HP:0001162HP:0001162Postaxial hand polydactyly0B9D1 CL E G H2707724123ORPHA:564Meckel syndromeHP:0040281 - Very frequent28
HP:0001162HP:0001162Postaxial hand polydactyly0B9D2 CL E G H8077628636ORPHA:564Meckel syndromeHP:0040281 - Very frequent34
HP:0001162HP:0001162Postaxial hand polydactyly0B9D2 CL E G H8077628636OMIM:614175Meckel syndrome, type 1034
HP:0001162HP:0001162Postaxial hand polydactyly0BBIP1 CL E G H9248228093ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent1
HP:0001162HP:0001162Postaxial hand polydactyly0BBS1 CL E G H582966ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent114
HP:0001162HP:0001162Postaxial hand polydactyly0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0001162HP:0001162Postaxial hand polydactyly0BBS10 CL E G H7973826291ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent118
HP:0001162HP:0001162Postaxial hand polydactyly0BBS12 CL E G H16637926648ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent71
HP:0001162HP:0001162Postaxial hand polydactyly0BBS2 CL E G H583967ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent97
HP:0001162HP:0001162Postaxial hand polydactyly0BBS2 CL E G H583967OMIM:615981Bardet-Biedl syndrome 297
HP:0001162HP:0001162Postaxial hand polydactyly0BBS4 CL E G H585969ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent87
HP:0001162HP:0001162Postaxial hand polydactyly0BBS5 CL E G H129880970ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent25
HP:0001162HP:0001162Postaxial hand polydactyly0BBS7 CL E G H5521218758ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent66
HP:0001162HP:0001162Postaxial hand polydactyly0BBS9 CL E G H2724130000ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent119
HP:0001162HP:0001162Postaxial hand polydactyly0BBS9 CL E G H2724130000OMIM:615986BARDET-BIEDL SYNDROME 9; BBS9119
HP:0001162HP:0001162Postaxial hand polydactyly0BHLHA9 CL E G H72785735126ORPHA:3329Tibial aplasia-ectrodactyly syndromeHP:0040283 - Occasional4
HP:0001162HP:0001162Postaxial hand polydactyly0BMPR1B CL E G H6581077ORPHA:2098Acromesomelic dysplasia, Grebe typeHP:0040282 - Frequent90
HP:0001162HP:0001162Postaxial hand polydactyly0C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 14HP:0040282 - Frequent27
HP:0001162HP:0001162Postaxial hand polydactyly0CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional247
HP:0001162HP:0001162Postaxial hand polydactyly0CC2D2A CL E G H5754529253ORPHA:564Meckel syndromeHP:0040281 - Very frequent247
HP:0001162HP:0001162Postaxial hand polydactyly0CC2D2A CL E G H5754529253OMIM:612284Meckel syndrome, type 6.247
HP:0001162HP:0001162Postaxial hand polydactyly0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0001162HP:0001162Postaxial hand polydactyly0CCND2 CL E G H8941583OMIM:615938Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3.11
HP:0001162HP:0001162Postaxial hand polydactyly0CCND2 CL E G H8941583ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndromeHP:0040281 - Very frequent11
HP:0001162HP:0001162Postaxial hand polydactyly0CD96 CL E G H1022516892OMIM:211750C syndrome.83
HP:0001162HP:0001162Postaxial hand polydactyly0CEP120 CL E G H15324126690ORPHA:474Jeune syndromeHP:0040283 - Occasional7
HP:0001162HP:0001162Postaxial hand polydactyly0CEP19 CL E G H8498428209ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent1
HP:0001162HP:0001162Postaxial hand polydactyly0CEP290 CL E G H8018429021ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent342
HP:0001162HP:0001162Postaxial hand polydactyly0CEP290 CL E G H8018429021ORPHA:564Meckel syndromeHP:0040281 - Very frequent342
HP:0001162HP:0001162Postaxial hand polydactyly0CEP290 CL E G H8018429021OMIM:611134Meckel syndrome, type 4.342
HP:0001162HP:0001162Postaxial hand polydactyly0CFAP418 CL E G H15765727232ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent
HP:0001162HP:0001162Postaxial hand polydactyly0CFAP418 CL E G H15765727232OMIM:617406Bardet-Biedl syndrome 21
HP:0001162HP:0001162Postaxial hand polydactyly0CIBAR1 CL E G H13739230452OMIM:618219POLYDACTYLY, POSTAXIAL, TYPE A9; PAPA9
HP:0001162HP:0001162Postaxial hand polydactyly0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0001162HP:0001162Postaxial hand polydactyly0CSPP1 CL E G H7984826193ORPHA:564Meckel syndromeHP:0040281 - Very frequent57
HP:0001162HP:0001162Postaxial hand polydactyly0DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 5HP:0040281 - Very frequent2
HP:0001162HP:0001162Postaxial hand polydactyly0DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V.2
HP:0001162HP:0001162Postaxial hand polydactyly0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040282 - Frequent159
HP:0001162HP:0001162Postaxial hand polydactyly0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0001162HP:0001162Postaxial hand polydactyly0DYNC2H1 CL E G H796592962ORPHA:474Jeune syndromeHP:0040283 - Occasional304
HP:0001162HP:0001162Postaxial hand polydactyly0DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent304
HP:0001162HP:0001162Postaxial hand polydactyly0DYNC2I1 CL E G H5511221862ORPHA:474Jeune syndromeHP:0040283 - Occasional
HP:0001162HP:0001162Postaxial hand polydactyly0DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent
HP:0001162HP:0001162Postaxial hand polydactyly0DYNC2I2 CL E G H8989128296ORPHA:474Jeune syndromeHP:0040283 - Occasional
HP:0001162HP:0001162Postaxial hand polydactyly0DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent
HP:0001162HP:0001162Postaxial hand polydactyly0DYNC2LI1 CL E G H5162624595ORPHA:474Jeune syndromeHP:0040283 - Occasional7
HP:0001162HP:0001162Postaxial hand polydactyly0DYNC2LI1 CL E G H5162624595OMIM:617088Short-rib thoracic dysplasia 15 with polydactyly7
HP:0001162HP:0001162Postaxial hand polydactyly0DYNLT2B CL E G H25575828482OMIM:617405Short-Rib thoracic dysplasia 17 with or without polydactyly
HP:0001162HP:0001162Postaxial hand polydactyly0EVC CL E G H21213497ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040281 - Very frequent209
HP:0001162HP:0001162Postaxial hand polydactyly0EVC CL E G H21213497OMIM:225500Ellis-Van creveld syndrome.209
HP:0001162HP:0001162Postaxial hand polydactyly0EVC CL E G H21213497OMIM:193530Weyers acrofacial dysostosis.209
HP:0001162HP:0001162Postaxial hand polydactyly0EVC2 CL E G H13288419747ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040281 - Very frequent137
HP:0001162HP:0001162Postaxial hand polydactyly0EVC2 CL E G H13288419747OMIM:225500Ellis-Van creveld syndrome.137
HP:0001162HP:0001162Postaxial hand polydactyly0EVC2 CL E G H13288419747OMIM:193530Weyers acrofacial dysostosis.137
HP:0001162HP:0001162Postaxial hand polydactyly0FGFR2 CL E G H22633689OMIM:101200Apert syndromeHP:0040283 - Occasional175
HP:0001162HP:0001162Postaxial hand polydactyly0FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II.493
HP:0001162HP:0001162Postaxial hand polydactyly0GDF5 CL E G H82004220ORPHA:2098Acromesomelic dysplasia, Grebe typeHP:0040282 - Frequent52
HP:0001162HP:0001162Postaxial hand polydactyly0GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0001162HP:0001162Postaxial hand polydactyly0GDF5 CL E G H82004220OMIM:200700Chondrodysplasia, Grebe type.52
HP:0001162HP:0001162Postaxial hand polydactyly0GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9173
HP:0001162HP:0001162Postaxial hand polydactyly0GLI3 CL E G H27374319ORPHA:36Acrocallosal syndromeHP:0040281 - Very frequent270
HP:0001162HP:0001162Postaxial hand polydactyly0GLI3 CL E G H27374319OMIM:175700Greig cephalopolysyndactyly syndrome270
HP:0001162HP:0001162Postaxial hand polydactyly0GLI3 CL E G H27374319ORPHA:380Greig cephalopolysyndactyly syndromeHP:0040281 - Very frequent270
HP:0001162HP:0001162Postaxial hand polydactyly0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040282 - Frequent270
HP:0001162HP:0001162Postaxial hand polydactyly0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0001162HP:0001162Postaxial hand polydactyly0GLI3 CL E G H27374319OMIM:174200Polydactyly, postaxial, type A1.270
HP:0001162HP:0001162Postaxial hand polydactyly0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040281 - Very frequent73
HP:0001162HP:0001162Postaxial hand polydactyly0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 1.73
HP:0001162HP:0001162Postaxial hand polydactyly0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040281 - Very frequent
HP:0001162HP:0001162Postaxial hand polydactyly0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1.
HP:0001162HP:0001162Postaxial hand polydactyly0HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndromeHP:0040283 - Occasional11
HP:0001162HP:0001162Postaxial hand polydactyly0HOXA13 CL E G H32095102OMIM:176305Preaxial deficiency, postaxial polydactyly, and hypospadias.11
HP:0001162HP:0001162Postaxial hand polydactyly0HYLS1 CL E G H21984426558ORPHA:2189HydrolethalusHP:0040281 - Very frequent31
HP:0001162HP:0001162Postaxial hand polydactyly0HYLS1 CL E G H21984426558OMIM:236680Hydrolethalus syndrome 131
HP:0001162HP:0001162Postaxial hand polydactyly0IFT140 CL E G H974229077ORPHA:474Jeune syndromeHP:0040283 - Occasional148
HP:0001162HP:0001162Postaxial hand polydactyly0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0001162HP:0001162Postaxial hand polydactyly0IFT172 CL E G H2616030391ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent48
HP:0001162HP:0001162Postaxial hand polydactyly0IFT172 CL E G H2616030391OMIM:619471BARDET-BIEDL SYNDROME 20; BBS2048
HP:0001162HP:0001162Postaxial hand polydactyly0IFT172 CL E G H2616030391ORPHA:474Jeune syndromeHP:0040283 - Occasional48
HP:0001162HP:0001162Postaxial hand polydactyly0IFT172 CL E G H2616030391OMIM:615630Short-Rib thoracic dysplasia 10 with or without polydactylyHP:0040283 - Occasional48
HP:0001162HP:0001162Postaxial hand polydactyly0IFT27 CL E G H1102018626ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent1
HP:0001162HP:0001162Postaxial hand polydactyly0IFT74 CL E G H8017321424ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent3
HP:0001162HP:0001162Postaxial hand polydactyly0IFT80 CL E G H5756029262OMIM:611263Asphyxiating thoracic dystrophy 2.65
HP:0001162HP:0001162Postaxial hand polydactyly0IFT80 CL E G H5756029262ORPHA:474Jeune syndromeHP:0040283 - Occasional65
HP:0001162HP:0001162Postaxial hand polydactyly0IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent65
HP:0001162HP:0001162Postaxial hand polydactyly0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1.111
HP:0001162HP:0001162Postaxial hand polydactyly0INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional111
HP:0001162HP:0001162Postaxial hand polydactyly0KIAA0825 CL E G H28560028532OMIM:618498Polydactyly, postaxial, type A10
HP:0001162HP:0001162Postaxial hand polydactyly0KIF7 CL E G H37465430497ORPHA:36Acrocallosal syndromeHP:0040281 - Very frequent167
HP:0001162HP:0001162Postaxial hand polydactyly0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0001162HP:0001162Postaxial hand polydactyly0KIF7 CL E G H37465430497ORPHA:2189HydrolethalusHP:0040281 - Very frequent167
HP:0001162HP:0001162Postaxial hand polydactyly0KIF7 CL E G H37465430497OMIM:614120Hydrolethalus syndrome 2167
HP:0001162HP:0001162Postaxial hand polydactyly0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0001162HP:0001162Postaxial hand polydactyly0LMBR1 CL E G H6432713243OMIM:174500Polydactyly, preaxial II106
HP:0001162HP:0001162Postaxial hand polydactyly0LZTFL1 CL E G H545856741ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent4
HP:0001162HP:0001162Postaxial hand polydactyly0LZTFL1 CL E G H545856741OMIM:615994BARDET-BIEDL SYNDROME 17; BBS174
HP:0001162HP:0001162Postaxial hand polydactyly0MBTPS2 CL E G H5136015455ORPHA:85284BRESEK syndromeHP:0040282 - Frequent22
HP:0001162HP:0001162Postaxial hand polydactyly0MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndromeHP:0040283 - Occasional22
HP:0001162HP:0001162Postaxial hand polydactyly0MEGF8 CL E G H19543233ORPHA:65759Carpenter syndromeHP:0040282 - Frequent13
HP:0001162HP:0001162Postaxial hand polydactyly0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0001162HP:0001162Postaxial hand polydactyly0MKKS CL E G H81957108ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent69
HP:0001162HP:0001162Postaxial hand polydactyly0MKKS CL E G H81957108ORPHA:2473McKusick-Kaufman syndromeHP:0040282 - Frequent69
HP:0001162HP:0001162Postaxial hand polydactyly0MKKS CL E G H81957108OMIM:236700Mckusick-Kaufman syndrome.69
HP:0001162HP:0001162Postaxial hand polydactyly0MKS1 CL E G H549037121ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent127
HP:0001162HP:0001162Postaxial hand polydactyly0MKS1 CL E G H549037121ORPHA:564Meckel syndromeHP:0040281 - Very frequent127
HP:0001162HP:0001162Postaxial hand polydactyly0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0001162HP:0001162Postaxial hand polydactyly0NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2HP:0040283 - Occasional101
HP:0001162HP:0001162Postaxial hand polydactyly0NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly.101
HP:0001162HP:0001162Postaxial hand polydactyly0NPHP1 CL E G H48677905ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent85
HP:0001162HP:0001162Postaxial hand polydactyly0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040283 - Occasional201
HP:0001162HP:0001162Postaxial hand polydactyly0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001162HP:0001162Postaxial hand polydactyly0PDE6D CL E G H51478788OMIM:615665Joubert syndrome 221
HP:0001162HP:0001162Postaxial hand polydactyly0PIK3R2 CL E G H52968980ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndromeHP:0040281 - Very frequent12
HP:0001162HP:0001162Postaxial hand polydactyly0PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorderHP:0040282 - Frequent3
HP:0001162HP:0001162Postaxial hand polydactyly0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0001162HP:0001162Postaxial hand polydactyly0PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0001162HP:0001162Postaxial hand polydactyly0RAB23 CL E G H5171514263ORPHA:65759Carpenter syndromeHP:0040282 - Frequent31
HP:0001162HP:0001162Postaxial hand polydactyly0RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0001162HP:0001162Postaxial hand polydactyly0RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndromeHP:0040281 - Very frequent109
HP:0001162HP:0001162Postaxial hand polydactyly0RPGRIP1L CL E G H2332229168OMIM:611560Joubert syndrome 7.167
HP:0001162HP:0001162Postaxial hand polydactyly0RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional167
HP:0001162HP:0001162Postaxial hand polydactyly0RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndromeHP:0040281 - Very frequent167
HP:0001162HP:0001162Postaxial hand polydactyly0RPGRIP1L CL E G H2332229168OMIM:611561Meckel syndrome, type 5.167
HP:0001162HP:0001162Postaxial hand polydactyly0SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS80
HP:0001162HP:0001162Postaxial hand polydactyly0SC5D CL E G H630910547ORPHA:46059LathosterolosisHP:0040282 - Frequent80
HP:0001162HP:0001162Postaxial hand polydactyly0SCAPER CL E G H4985513081ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent
HP:0001162HP:0001162Postaxial hand polydactyly0SCNM1 CL E G H7900523136OMIM:620107
HP:0001162HP:0001162Postaxial hand polydactyly0SDCCAG8 CL E G H1080610671ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent61
HP:0001162HP:0001162Postaxial hand polydactyly0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0001162HP:0001162Postaxial hand polydactyly0SMO CL E G H660811119OMIM:241800Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included.22
HP:0001162HP:0001162Postaxial hand polydactyly0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040282 - Frequent15
HP:0001162HP:0001162Postaxial hand polydactyly0SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies.15
HP:0001162HP:0001162Postaxial hand polydactyly0TBX3 CL E G H692611602ORPHA:3138Ulnar-mammary syndromeHP:0040283 - Occasional100
HP:0001162HP:0001162Postaxial hand polydactyly0TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome.100
HP:0001162HP:0001162Postaxial hand polydactyly0TCTN1 CL E G H7960026113ORPHA:564Meckel syndromeHP:0040281 - Very frequent45
HP:0001162HP:0001162Postaxial hand polydactyly0TCTN2 CL E G H7986725774OMIM:616654Joubert syndrome 24.76
HP:0001162HP:0001162Postaxial hand polydactyly0TCTN2 CL E G H7986725774ORPHA:564Meckel syndromeHP:0040281 - Very frequent76
HP:0001162HP:0001162Postaxial hand polydactyly0TCTN3 CL E G H2612324519ORPHA:564Meckel syndromeHP:0040281 - Very frequent31
HP:0001162HP:0001162Postaxial hand polydactyly0TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040281 - Very frequent31
HP:0001162HP:0001162Postaxial hand polydactyly0TGFBR1 CL E G H704611772OMIM:609192Loeys-Dietz syndrome 1239
HP:0001162HP:0001162Postaxial hand polydactyly0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome.6
HP:0001162HP:0001162Postaxial hand polydactyly0TMEM107 CL E G H8431428128ORPHA:564Meckel syndromeHP:0040281 - Very frequent4
HP:0001162HP:0001162Postaxial hand polydactyly0TMEM107 CL E G H8431428128OMIM:617563Orofaciodigital syndrome XVI.4
HP:0001162HP:0001162Postaxial hand polydactyly0TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 2.45
HP:0001162HP:0001162Postaxial hand polydactyly0TMEM216 CL E G H5125925018ORPHA:564Meckel syndromeHP:0040281 - Very frequent45
HP:0001162HP:0001162Postaxial hand polydactyly0TMEM216 CL E G H5125925018OMIM:603194Meckel syndrome, type 2.45
HP:0001162HP:0001162Postaxial hand polydactyly0TMEM231 CL E G H7958337234ORPHA:564Meckel syndromeHP:0040281 - Very frequent33
HP:0001162HP:0001162Postaxial hand polydactyly0TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 3HP:0040282 - Frequent33
HP:0001162HP:0001162Postaxial hand polydactyly0TMEM237 CL E G H6506214432ORPHA:564Meckel syndromeHP:0040281 - Very frequent82
HP:0001162HP:0001162Postaxial hand polydactyly0TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1166
HP:0001162HP:0001162Postaxial hand polydactyly0TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional166
HP:0001162HP:0001162Postaxial hand polydactyly0TMEM67 CL E G H9114728396ORPHA:564Meckel syndromeHP:0040281 - Very frequent166
HP:0001162HP:0001162Postaxial hand polydactyly0TMEM67 CL E G H9114728396OMIM:607361Meckel syndrome 3.166
HP:0001162HP:0001162Postaxial hand polydactyly0TRIM32 CL E G H2295416380ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent108
HP:0001162HP:0001162Postaxial hand polydactyly0TTC21B CL E G H7980925660ORPHA:474Jeune syndromeHP:0040283 - Occasional132
HP:0001162HP:0001162Postaxial hand polydactyly0TTC8 CL E G H12301620087ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent41
HP:0001162HP:0001162Postaxial hand polydactyly0TXNDC15 CL E G H7977020652OMIM:6198792
HP:0001162HP:0001162Postaxial hand polydactyly0TXNDC15 CL E G H7977020652ORPHA:564Meckel syndromeHP:0040281 - Very frequent2
HP:0001162HP:0001162Postaxial hand polydactyly0WDPCP CL E G H5105728027ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent60
HP:0001162HP:0001162Postaxial hand polydactyly0WDPCP CL E G H5105728027OMIM:217085Congenital heart defects, hamartomas of tongue, and polysyndactyly.60
HP:0001162HP:0001162Postaxial hand polydactyly0WDR19 CL E G H5772818340ORPHA:474Jeune syndromeHP:0040283 - Occasional95
HP:0001162HP:0001162Postaxial hand polydactyly0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0001162HP:0001162Postaxial hand polydactyly0WDR35 CL E G H5753929250ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent136
HP:0001162HP:0001162Postaxial hand polydactyly0WNT7A CL E G H747612786OMIM:228930Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly13
HP:0001162HP:0001162Postaxial hand polydactyly0ZNF141 CL E G H770012926OMIM:615226Polydactyly, postaxial, type A6.3
HP:0001162HP:0005676Rudimentary postaxial polydactyly of hands1 CL E G H
HP:0001162HP:0006136Bilateral postaxial polydactyly1GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040282 - Frequent270
HP:0001162HP:0005696Postaxial polydactyly type A1KIAA0825 CL E G H28560028532OMIM:618498Polydactyly, postaxial, type A10
HP:0001162HP:0006136Bilateral postaxial polydactyly1MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0001162HP:0005696Postaxial polydactyly type A1WDPCP CL E G H5105728027OMIM:217085Congenital heart defects, hamartomas of tongue, and polysyndactyly60


Genes (101) :AKT3 ALX3 ARL6 ARMC9 B9D1 B9D2 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BHLHA9 BMPR1B C2CD3 CC2D2A CCDC28B CCND2 CD96 CEP120 CEP19 CEP290 CFAP418 CIBAR1 CPLANE1 CSPP1 DDX59 DHCR7 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B EVC EVC2 FGFR2 FLNA GDF5 GLI2 GLI3 GPC3 GPC4 HOXA13 HYLS1 IFT140 IFT172 IFT27 IFT74 IFT80 INPP5E KIAA0825 KIF7 LBR LMBR1 LZTFL1 MBTPS2 MEGF8 MKKS MKS1 NEK1 NPHP1 OFD1 OTUD5 PDE6D PIK3R2 PLAA PORCN PRKACB RAB23 RPGRIP1 RPGRIP1L SC5D SCAPER SCNM1 SDCCAG8 SETBP1 SMO SMOC1 TBX3 TCTN1 TCTN2 TCTN3 TGFBR1 TMCO1 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TRIM32 TTC21B TTC8 TXNDC15 WDPCP WDR19 WDR35 WNT7A ZNF141

Diseases (102) :OMIM:615937 ORPHA:83473 OMIM:136760 ORPHA:110 OMIM:209900 OMIM:617622 ORPHA:564 OMIM:614175 OMIM:615981 OMIM:615986 ORPHA:3329 ORPHA:2098 ORPHA:434179 ORPHA:1454 OMIM:612284 OMIM:615938 OMIM:211750 ORPHA:474 OMIM:611134 OMIM:617406 OMIM:618219 OMIM:277170 ORPHA:2919 OMIM:174300 ORPHA:818 OMIM:270400 ORPHA:93271 OMIM:617088 OMIM:617405 ORPHA:952 OMIM:225500 OMIM:193530 OMIM:101200 OMIM:304120 OMIM:113100 OMIM:200700 OMIM:610829 ORPHA:36 OMIM:175700 ORPHA:380 ORPHA:672 OMIM:146510 OMIM:174200 ORPHA:373 OMIM:312870 ORPHA:2438 OMIM:176305 ORPHA:2189 OMIM:236680 OMIM:266920 OMIM:619471 OMIM:615630 OMIM:611263 OMIM:213300 OMIM:618498 OMIM:200990 OMIM:614120 OMIM:215140 OMIM:174500 OMIM:615994 ORPHA:85284 OMIM:308205 ORPHA:65759 OMIM:614976 ORPHA:2473 OMIM:236700 OMIM:249000 ORPHA:2751 OMIM:263520 ORPHA:2750 OMIM:301056 OMIM:615665 ORPHA:521426 OMIM:305600 OMIM:619143 OMIM:201000 OMIM:611560 OMIM:611561 OMIM:607330 ORPHA:46059 OMIM:620107 OMIM:269150 OMIM:241800 ORPHA:1106 OMIM:206920 ORPHA:3138 OMIM:181450 OMIM:616654 ORPHA:2753 OMIM:609192 OMIM:213980 OMIM:617563 OMIM:608091 OMIM:603194 ORPHA:2752 OMIM:216360 OMIM:607361 OMIM:619879 OMIM:217085 OMIM:613610 OMIM:228930 OMIM:615226
 

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