Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:457 | Harlequin ichthyosis | HP:0040283 - Occasional | | | 130 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 175 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | ARL13B CL E G H | 200894 | 25419 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 62 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | ARL3 CL E G H | 403 | 694 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 29 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | ARMC9 CL E G H | 80210 | 20730 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 28 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | | | | 28 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | | | | 34 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | B9D2 CL E G H | 80776 | 28636 | OMIM:614175 | Meckel syndrome, type 10 | | | | 34 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 114 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | BBS2 CL E G H | 583 | 967 | OMIM:615981 | Bardet-Biedl syndrome 2 | | | | 97 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | BBS9 CL E G H | 27241 | 30000 | OMIM:615986 | BARDET-BIEDL SYNDROME 9; BBS9 | | | | 119 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | BMP4 CL E G H | 652 | 1071 | ORPHA:139471 | Microphthalmia with brain and digit anomalies | | | | 38 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | | | | 27 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | CBY1 CL E G H | 25776 | 1307 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 247 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | | | | 247 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:612284 | Meckel syndrome, type 6 | | | | 247 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 4 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | CD96 CL E G H | 10225 | 16892 | OMIM:211750 | C syndrome | | | | 83 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | CEP104 CL E G H | 9731 | 24866 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:474 | Jeune syndrome | | | | 7 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 7 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 342 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | | | | 342 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | CEP41 CL E G H | 95681 | 12370 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 90 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | CEP41 CL E G H | 95681 | 12370 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 90 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | CIBAR1 CL E G H | 137392 | 30452 | OMIM:618219 | POLYDACTYLY, POSTAXIAL, TYPE A9; PAPA9 | | | | | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | | | | | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | | | | 57 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | DDX59 CL E G H | 83479 | 25360 | ORPHA:2919 | Orofaciodigital syndrome type 5 | | | | 2 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | DDX59 CL E G H | 83479 | 25360 | OMIM:174300 | Orofaciodigital syndrome V | | | | 2 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:474 | Jeune syndrome | | | | 304 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:474 | Jeune syndrome | | | | | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:474 | Jeune syndrome | | | | | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:474 | Jeune syndrome | | | | 7 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | DYNLT2B CL E G H | 255758 | 28482 | OMIM:617405 | Short-Rib thoracic dysplasia 17 with or without polydactyly | | | | | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | EVC CL E G H | 2121 | 3497 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 209 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | EVC CL E G H | 2121 | 3497 | OMIM:225500 | Ellis-Van creveld syndrome | | | | 209 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | EVC CL E G H | 2121 | 3497 | OMIM:193530 | Weyers acrofacial dysostosis | | | | 209 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | EVC2 CL E G H | 132884 | 19747 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 137 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | EVC2 CL E G H | 132884 | 19747 | OMIM:225500 | Ellis-Van creveld syndrome | | | | 137 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | EVC2 CL E G H | 132884 | 19747 | OMIM:193530 | Weyers acrofacial dysostosis | | | | 137 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | FAM149B1 CL E G H | 317662 | 29162 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1540 | Jackson-Weiss syndrome | | | | 175 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | GLI1 CL E G H | 2735 | 4317 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:380 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:175700 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186000 | Synpolydactyly 1 | | | | 25 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:474 | Jeune syndrome | | | | 148 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:619471 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 48 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:474 | Jeune syndrome | | | | 48 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | IFT74 CL E G H | 80173 | 21424 | OMIM:617119 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 3 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | IFT80 CL E G H | 57560 | 29262 | ORPHA:474 | Jeune syndrome | | | | 65 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 111 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | | | | 111 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 111 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | KATNIP CL E G H | 23247 | 29068 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 24 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | KIAA0753 CL E G H | 9851 | 29110 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 4 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | KIAA0825 CL E G H | 285600 | 28532 | OMIM:618498 | Polydactyly, postaxial, type A10 | | | | | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:614120 | Hydrolethalus syndrome 2 | | | | 167 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 167 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | LMBR1 CL E G H | 64327 | 13243 | ORPHA:2378 | Laurin-Sandrow syndrome | | | | 106 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | LMBR1 CL E G H | 64327 | 13243 | OMIM:174500 | Polydactyly, preaxial II | | | | 106 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | LMBR1 CL E G H | 64327 | 13243 | ORPHA:93405 | Syndactyly type 4 | HP:0040282 - Frequent | | | 106 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:488232 | Split-foot malformation-mesoaxial polydactyly syndrome | | | | 2 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | MEGF8 CL E G H | 1954 | 3233 | ORPHA:65759 | Carpenter syndrome | | | | 13 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | MKKS CL E G H | 8195 | 7108 | ORPHA:2473 | McKusick-Kaufman syndrome | | | | 69 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 127 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 127 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | | | | 127 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | . | | | 127 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | | | | 101 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | | | | 101 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | NPHP3 CL E G H | 27031 | 7907 | OMIM:267010 | MECKEL SYNDROME, TYPE 7; MKS7 | | | | 157 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | HP:0040282 - Frequent | | | 201 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 201 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | PDE6D CL E G H | 5147 | 8788 | OMIM:615665 | Joubert syndrome 22 | | | | 1 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | PDE6D CL E G H | 5147 | 8788 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 1 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | PIBF1 CL E G H | 10464 | 23352 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:276280 | Hemihyperplasia-multiple lipomatosis syndrome | HP:0040283 - Occasional | | | 162 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:60040 | Megalencephaly-capillary malformation-polymicrogyria syndrome | HP:0040281 - Very frequent | | | 162 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | PITX1 CL E G H | 5307 | 9004 | OMIM:119800 | CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF | | | | 8 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | PLAA CL E G H | 9373 | 9043 | ORPHA:521426 | PLAA-associated neurodevelopmental disorder | | | | 3 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 148 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | PRKACA CL E G H | 5566 | 9380 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | PRKACB CL E G H | 5567 | 9381 | OMIM:619143 | CARDIOACROFACIAL DYSPLASIA 2; CAFD2 | | | | 2 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | PRKACB CL E G H | 5567 | 9381 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | RAB23 CL E G H | 51715 | 14263 | ORPHA:65759 | Carpenter syndrome | | | | 31 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | | | | 109 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | | | | 167 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611561 | Meckel syndrome, type 5 | | | | 167 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | | | | 80 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | SCNM1 CL E G H | 79005 | 23136 | OMIM:620107 | | | | | | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | SETD5 CL E G H | 55209 | 25566 | ORPHA:404440 | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | | | | 43 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93405 | Syndactyly type 4 | HP:0040282 - Frequent | | | 67 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:1553 | Curry-Jones syndrome | HP:0040282 - Frequent | | | 22 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | SMO CL E G H | 6608 | 11119 | OMIM:601707 | Curry-Jones syndrome | | | | 22 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | SMO CL E G H | 6608 | 11119 | OMIM:241800 | Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included | | | | 22 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | SMOC1 CL E G H | 64093 | 20318 | OMIM:206920 | Microphthalmia with limb anomalies | | | | 15 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | | | | 15 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 124 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 45 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | | | | 45 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 76 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | | | | 76 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | | | | 31 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | TCTN3 CL E G H | 26123 | 24519 | OMIM:258860 | Orofaciodigital syndrome IV | . | | | 31 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 31 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | TFAP2B CL E G H | 7021 | 11743 | ORPHA:46627 | Char syndrome | | | | 104 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | | | | 4 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | TMEM107 CL E G H | 84314 | 28128 | OMIM:617563 | Orofaciodigital syndrome XVI | | | | 4 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | TMEM138 CL E G H | 51524 | 26944 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 39 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | | | | 45 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 45 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | | | | 45 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 45 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | TMEM218 CL E G H | 219854 | 27344 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 33 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | | | | 33 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2752 | Orofaciodigital syndrome type 3 | | | | 33 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 82 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 82 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | | | | 82 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 166 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | | | | 166 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:607361 | Meckel syndrome 3 | | | | 166 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | TOGARAM1 CL E G H | 23116 | 19959 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | TOPORS CL E G H | 10210 | 21653 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 61 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | TTC21B CL E G H | 79809 | 25660 | ORPHA:474 | Jeune syndrome | | | | 132 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | TXNDC15 CL E G H | 79770 | 20652 | OMIM:619879 | | | | | 2 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | | | | 2 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:474 | Jeune syndrome | | | | 95 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | ZNF141 CL E G H | 7700 | 12926 | OMIM:615226 | Polydactyly, postaxial, type A6 | | | | 3 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | ZNF423 CL E G H | 23090 | 16762 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 49 | | |
HP:0001829 | HP:0001829 | Foot polydactyly | 0 | ZSWIM6 CL E G H | 57688 | 29316 | ORPHA:1827 | Acromelic frontonasal dysplasia | | | | 5 | | |
HP:0001829 | HP:0010440 | Ectopic accesory toe-like appendage | 1 | CL E G H | | | | | | | | | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 29 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 28 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | B9D2 CL E G H | 80776 | 28636 | OMIM:614175 | Meckel syndrome, type 10 | | | | 34 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 114 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | BBS2 CL E G H | 583 | 967 | OMIM:615981 | Bardet-Biedl syndrome 2 | | | | 97 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | BBS9 CL E G H | 27241 | 30000 | OMIM:615986 | BARDET-BIEDL SYNDROME 9; BBS9 | | | | 119 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | BMP4 CL E G H | 652 | 1071 | ORPHA:139471 | Microphthalmia with brain and digit anomalies | HP:0040283 - Occasional | | | 38 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | HP:0040282 - Frequent | | | 27 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 247 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | CC2D2A CL E G H | 57545 | 29253 | OMIM:612284 | Meckel syndrome, type 6 | | | | 247 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 4 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | CD96 CL E G H | 10225 | 16892 | OMIM:211750 | C syndrome | . | | | 83 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | CEP120 CL E G H | 153241 | 26690 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 342 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | CIBAR1 CL E G H | 137392 | 30452 | OMIM:618219 | POLYDACTYLY, POSTAXIAL, TYPE A9; PAPA9 | | | | | | |
HP:0001829 | HP:0001841 | Preaxial foot polydactyly | 1 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | . | | | | | |
HP:0001829 | HP:0001841 | Preaxial foot polydactyly | 1 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 57 | | |
HP:0001829 | HP:0001841 | Preaxial foot polydactyly | 1 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | DDX59 CL E G H | 83479 | 25360 | ORPHA:2919 | Orofaciodigital syndrome type 5 | HP:0040281 - Very frequent | | | 2 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | DDX59 CL E G H | 83479 | 25360 | OMIM:174300 | Orofaciodigital syndrome V | . | | | 2 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040282 - Frequent | | | 159 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 304 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | DYNLT2B CL E G H | 255758 | 28482 | OMIM:617405 | Short-Rib thoracic dysplasia 17 with or without polydactyly | | | | | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | EVC CL E G H | 2121 | 3497 | OMIM:225500 | Ellis-Van creveld syndrome | . | | | 209 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | EVC CL E G H | 2121 | 3497 | OMIM:193530 | Weyers acrofacial dysostosis | . | | | 209 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | EVC2 CL E G H | 132884 | 19747 | OMIM:225500 | Ellis-Van creveld syndrome | . | | | 137 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | EVC2 CL E G H | 132884 | 19747 | OMIM:193530 | Weyers acrofacial dysostosis | . | | | 137 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0001829 | HP:0001841 | Preaxial foot polydactyly | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1540 | Jackson-Weiss syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0001829 | HP:0001841 | Preaxial foot polydactyly | 1 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0001829 | HP:0010112 | Mesoaxial foot polydactyly | 1 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0001829 | HP:0010112 | Mesoaxial foot polydactyly | 1 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0001829 | HP:0001841 | Preaxial foot polydactyly | 1 | GLI3 CL E G H | 2737 | 4319 | OMIM:175700 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:380 | Greig cephalopolysyndactyly syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | GLI3 CL E G H | 2737 | 4319 | OMIM:175700 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0001829 | HP:0001841 | Preaxial foot polydactyly | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:380 | Greig cephalopolysyndactyly syndrome | HP:0040281 - Very frequent | | | 270 | | |
HP:0001829 | HP:0010112 | Mesoaxial foot polydactyly | 1 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186000 | Synpolydactyly 1 | . | | | 25 | | |
HP:0001829 | HP:0001841 | Preaxial foot polydactyly | 1 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186000 | Synpolydactyly 1 | HP:0040283 - Occasional | | | 25 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | IFT140 CL E G H | 9742 | 29077 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 148 | | |
HP:0001829 | HP:0001841 | Preaxial foot polydactyly | 1 | IFT172 CL E G H | 26160 | 30391 | OMIM:619471 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 48 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | IFT172 CL E G H | 26160 | 30391 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 48 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | IFT74 CL E G H | 80173 | 21424 | OMIM:617119 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 3 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | IFT80 CL E G H | 57560 | 29262 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | HP:0040283 - Occasional | | | 111 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | KIAA0825 CL E G H | 285600 | 28532 | OMIM:618498 | Polydactyly, postaxial, type A10 | | | | | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0001829 | HP:0001841 | Preaxial foot polydactyly | 1 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | KIF7 CL E G H | 374654 | 30497 | OMIM:614120 | Hydrolethalus syndrome 2 | | | | 167 | | |
HP:0001829 | HP:0001841 | Preaxial foot polydactyly | 1 | KIF7 CL E G H | 374654 | 30497 | OMIM:614120 | Hydrolethalus syndrome 2 | | | | 167 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0001829 | HP:0001841 | Preaxial foot polydactyly | 1 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0001829 | HP:0001841 | Preaxial foot polydactyly | 1 | LMBR1 CL E G H | 64327 | 13243 | ORPHA:2378 | Laurin-Sandrow syndrome | HP:0040281 - Very frequent | | | 106 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | LMBR1 CL E G H | 64327 | 13243 | OMIM:174500 | Polydactyly, preaxial II | | | | 106 | | |
HP:0001829 | HP:0001841 | Preaxial foot polydactyly | 1 | LMBR1 CL E G H | 64327 | 13243 | OMIM:174500 | Polydactyly, preaxial II | | | | 106 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0001829 | HP:0010112 | Mesoaxial foot polydactyly | 1 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:488232 | Split-foot malformation-mesoaxial polydactyly syndrome | | | | 2 | | |
HP:0001829 | HP:0001841 | Preaxial foot polydactyly | 1 | MEGF8 CL E G H | 1954 | 3233 | ORPHA:65759 | Carpenter syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | MKKS CL E G H | 8195 | 7108 | ORPHA:2473 | McKusick-Kaufman syndrome | HP:0040283 - Occasional | | | 69 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 127 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | | | | 127 | | |
HP:0001829 | HP:0001841 | Preaxial foot polydactyly | 1 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | HP:0040282 - Frequent | | | 101 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | | | | 101 | | |
HP:0001829 | HP:0001841 | Preaxial foot polydactyly | 1 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | | | | 101 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | NPHP3 CL E G H | 27031 | 7907 | OMIM:267010 | MECKEL SYNDROME, TYPE 7; MKS7 | | | | 157 | | |
HP:0001829 | HP:0001841 | Preaxial foot polydactyly | 1 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | PDE6D CL E G H | 5147 | 8788 | OMIM:615665 | Joubert syndrome 22 | | | | 1 | | |
HP:0001829 | HP:0001841 | Preaxial foot polydactyly | 1 | PITX1 CL E G H | 5307 | 9004 | OMIM:119800 | CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF | | | | 8 | | |
HP:0001829 | HP:0010691 | Mirror image foot polydactyly | 1 | PITX1 CL E G H | 5307 | 9004 | OMIM:119800 | CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF | | | | 8 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | PLAA CL E G H | 9373 | 9043 | ORPHA:521426 | PLAA-associated neurodevelopmental disorder | HP:0040282 - Frequent | | | 3 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | PRKACB CL E G H | 5567 | 9381 | OMIM:619143 | CARDIOACROFACIAL DYSPLASIA 2; CAFD2 | | | | 2 | | |
HP:0001829 | HP:0001841 | Preaxial foot polydactyly | 1 | RAB23 CL E G H | 51715 | 14263 | ORPHA:65759 | Carpenter syndrome | HP:0040282 - Frequent | | | 31 | | |
HP:0001829 | HP:0001841 | Preaxial foot polydactyly | 1 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 109 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 167 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611561 | Meckel syndrome, type 5 | . | | | 167 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | HP:0040281 - Very frequent | | | 80 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | SCNM1 CL E G H | 79005 | 23136 | OMIM:620107 | | | | | | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | SETD5 CL E G H | 55209 | 25566 | ORPHA:404440 | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | HP:0040283 - Occasional | | | 43 | | |
HP:0001829 | HP:0001841 | Preaxial foot polydactyly | 1 | SMO CL E G H | 6608 | 11119 | OMIM:601707 | Curry-Jones syndrome | | | | 22 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | SMO CL E G H | 6608 | 11119 | OMIM:241800 | Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included | | | | 22 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | HP:0040283 - Occasional | | | 15 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | SMOC1 CL E G H | 64093 | 20318 | OMIM:206920 | Microphthalmia with limb anomalies | . | | | 15 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 45 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 76 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 31 | | |
HP:0001829 | HP:0010112 | Mesoaxial foot polydactyly | 1 | TFAP2B CL E G H | 7021 | 11743 | ORPHA:46627 | Char syndrome | HP:0040283 - Occasional | | | 104 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | TMEM107 CL E G H | 84314 | 28128 | OMIM:617563 | Orofaciodigital syndrome XVI | | | | 4 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | | | | 45 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 45 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2752 | Orofaciodigital syndrome type 3 | HP:0040282 - Frequent | | | 33 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 82 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | TMEM67 CL E G H | 91147 | 28396 | OMIM:607361 | Meckel syndrome 3 | | | | 166 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | TTC21B CL E G H | 79809 | 25660 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 132 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | TXNDC15 CL E G H | 79770 | 20652 | OMIM:619879 | | | | | 2 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | WDR19 CL E G H | 57728 | 18340 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 95 | | |
HP:0001829 | HP:0001830 | Postaxial foot polydactyly | 1 | ZNF141 CL E G H | 7700 | 12926 | OMIM:615226 | Polydactyly, postaxial, type A6 | | | | 3 | | |
HP:0001829 | HP:0001841 | Preaxial foot polydactyly | 1 | ZSWIM6 CL E G H | 57688 | 29316 | ORPHA:1827 | Acromelic frontonasal dysplasia | HP:0040281 - Very frequent | | | 5 | | |
HP:0001829 | HP:0010340 | Polydactyly affecting the 4th toe | 2 | CL E G H | | | | | | | | | | |
HP:0001829 | HP:0010334 | Polydactyly affecting the 3rd toe | 2 | CL E G H | | | | | | | | | | |
HP:0001829 | HP:0010328 | Polydactyly affecting the 2nd toe | 2 | CL E G H | | | | | | | | | | |
HP:0001829 | HP:0005817 | Postaxial polysyndactyly of foot | 2 | DDX59 CL E G H | 83479 | 25360 | ORPHA:2919 | Orofaciodigital syndrome type 5 | HP:0040283 - Occasional | | | 2 | | |
HP:0001829 | HP:0005873 | Polysyndactyly of hallux | 2 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | HP:0040283 - Occasional | | | 101 | | |
HP:0001829 | HP:0005873 | Polysyndactyly of hallux | 2 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | . | | | 101 | | |
HP:0001829 | HP:0005817 | Postaxial polysyndactyly of foot | 2 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | . | | | 101 | | |