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:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | AKT3 CL E G H | 10000 | 393 | OMIM:615937 | Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2 | . | | | 19 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | AKT3 CL E G H | 10000 | 393 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | HP:0040281 - Very frequent | | | 19 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | ALX3 CL E G H | 257 | 449 | OMIM:136760 | Frontonasal dysplasia 1 | . | | | 9 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | ARL6 CL E G H | 84100 | 13210 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 29 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 29 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | ARMC9 CL E G H | 80210 | 20730 | OMIM:617622 | JOUBERT SYNDROME 30; JBTS30 | | | | | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 28 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | B9D2 CL E G H | 80776 | 28636 | OMIM:614175 | Meckel syndrome, type 10 | | | | 34 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | BBIP1 CL E G H | 92482 | 28093 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | BBS1 CL E G H | 582 | 966 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 114 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 114 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | BBS10 CL E G H | 79738 | 26291 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 118 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | BBS12 CL E G H | 166379 | 26648 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 71 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | BBS2 CL E G H | 583 | 967 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 97 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | BBS2 CL E G H | 583 | 967 | OMIM:615981 | Bardet-Biedl syndrome 2 | | | | 97 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | BBS4 CL E G H | 585 | 969 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 87 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | BBS5 CL E G H | 129880 | 970 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 25 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | BBS7 CL E G H | 55212 | 18758 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 66 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | BBS9 CL E G H | 27241 | 30000 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 119 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | BBS9 CL E G H | 27241 | 30000 | OMIM:615986 | BARDET-BIEDL SYNDROME 9; BBS9 | | | | 119 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | BHLHA9 CL E G H | 727857 | 35126 | ORPHA:3329 | Tibial aplasia-ectrodactyly syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | BMPR1B CL E G H | 658 | 1077 | ORPHA:2098 | Acromesomelic dysplasia, Grebe type | HP:0040282 - Frequent | | | 90 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | HP:0040282 - Frequent | | | 27 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 247 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 247 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:612284 | Meckel syndrome, type 6 | . | | | 247 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 4 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | CCND2 CL E G H | 894 | 1583 | OMIM:615938 | Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3 | . | | | 11 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | CCND2 CL E G H | 894 | 1583 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | CD96 CL E G H | 10225 | 16892 | OMIM:211750 | C syndrome | . | | | 83 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | CEP19 CL E G H | 84984 | 28209 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 342 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 342 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | CEP290 CL E G H | 80184 | 29021 | OMIM:611134 | Meckel syndrome, type 4 | . | | | 342 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | CFAP418 CL E G H | 157657 | 27232 | OMIM:617406 | Bardet-Biedl syndrome 21 | | | | | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | CIBAR1 CL E G H | 137392 | 30452 | OMIM:618219 | POLYDACTYLY, POSTAXIAL, TYPE A9; PAPA9 | | | | | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | | | | | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 57 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | DDX59 CL E G H | 83479 | 25360 | ORPHA:2919 | Orofaciodigital syndrome type 5 | HP:0040281 - Very frequent | | | 2 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | DDX59 CL E G H | 83479 | 25360 | OMIM:174300 | Orofaciodigital syndrome V | . | | | 2 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040282 - Frequent | | | 159 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 304 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | 304 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | OMIM:617088 | Short-rib thoracic dysplasia 15 with polydactyly | | | | 7 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | DYNLT2B CL E G H | 255758 | 28482 | OMIM:617405 | Short-Rib thoracic dysplasia 17 with or without polydactyly | | | | | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | EVC CL E G H | 2121 | 3497 | ORPHA:952 | Acrofacial dysostosis, Weyers type | HP:0040281 - Very frequent | | | 209 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | EVC CL E G H | 2121 | 3497 | OMIM:225500 | Ellis-Van creveld syndrome | . | | | 209 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | EVC CL E G H | 2121 | 3497 | OMIM:193530 | Weyers acrofacial dysostosis | . | | | 209 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | EVC2 CL E G H | 132884 | 19747 | ORPHA:952 | Acrofacial dysostosis, Weyers type | HP:0040281 - Very frequent | | | 137 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | EVC2 CL E G H | 132884 | 19747 | OMIM:225500 | Ellis-Van creveld syndrome | . | | | 137 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | EVC2 CL E G H | 132884 | 19747 | OMIM:193530 | Weyers acrofacial dysostosis | . | | | 137 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:304120 | Otopalatodigital syndrome, type II | . | | | 493 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:2098 | Acromesomelic dysplasia, Grebe type | HP:0040282 - Frequent | | | 52 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | | | | 52 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:200700 | Chondrodysplasia, Grebe type | . | | | 52 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | | | | 173 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:36 | Acrocallosal syndrome | HP:0040281 - Very frequent | | | 270 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:175700 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:380 | Greig cephalopolysyndactyly syndrome | HP:0040281 - Very frequent | | | 270 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040282 - Frequent | | | 270 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:174200 | Polydactyly, postaxial, type A1 | . | | | 270 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040281 - Very frequent | | | 73 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | . | | | 73 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | . | | | | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | HOXA13 CL E G H | 3209 | 5102 | ORPHA:2438 | Hand-foot-genital syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | HOXA13 CL E G H | 3209 | 5102 | OMIM:176305 | Preaxial deficiency, postaxial polydactyly, and hypospadias | . | | | 11 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:2189 | Hydrolethalus | HP:0040281 - Very frequent | | | 31 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | HYLS1 CL E G H | 219844 | 26558 | OMIM:236680 | Hydrolethalus syndrome 1 | | | | 31 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 148 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 48 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:619471 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 48 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 48 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:615630 | Short-Rib thoracic dysplasia 10 with or without polydactyly | HP:0040283 - Occasional | | | 48 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | IFT27 CL E G H | 11020 | 18626 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | IFT74 CL E G H | 80173 | 21424 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | IFT80 CL E G H | 57560 | 29262 | OMIM:611263 | Asphyxiating thoracic dystrophy 2 | . | | | 65 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | IFT80 CL E G H | 57560 | 29262 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | IFT80 CL E G H | 57560 | 29262 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | 65 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | . | | | 111 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 111 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | KIAA0825 CL E G H | 285600 | 28532 | OMIM:618498 | Polydactyly, postaxial, type A10 | | | | | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:36 | Acrocallosal syndrome | HP:0040281 - Very frequent | | | 167 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2189 | Hydrolethalus | HP:0040281 - Very frequent | | | 167 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:614120 | Hydrolethalus syndrome 2 | | | | 167 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | LMBR1 CL E G H | 64327 | 13243 | OMIM:174500 | Polydactyly, preaxial II | | | | 106 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | LZTFL1 CL E G H | 54585 | 6741 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:85284 | BRESEK syndrome | HP:0040282 - Frequent | | | 22 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | MEGF8 CL E G H | 1954 | 3233 | ORPHA:65759 | Carpenter syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | MKKS CL E G H | 8195 | 7108 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 69 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | MKKS CL E G H | 8195 | 7108 | OMIM:236700 | Mckusick-Kaufman syndrome | . | | | 69 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | MKKS CL E G H | 8195 | 7108 | ORPHA:2473 | McKusick-Kaufman syndrome | HP:0040282 - Frequent | | | 69 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 127 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 127 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | | | | 127 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | HP:0040283 - Occasional | | | 101 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | . | | | 101 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 85 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | HP:0040283 - Occasional | | | 201 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | PDE6D CL E G H | 5147 | 8788 | OMIM:615665 | Joubert syndrome 22 | | | | 1 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | PIK3R2 CL E G H | 5296 | 8980 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | HP:0040281 - Very frequent | | | 12 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | PLAA CL E G H | 9373 | 9043 | ORPHA:521426 | PLAA-associated neurodevelopmental disorder | HP:0040282 - Frequent | | | 3 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | PRKACB CL E G H | 5567 | 9381 | OMIM:619143 | CARDIOACROFACIAL DYSPLASIA 2; CAFD2 | | | | 2 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | RAB23 CL E G H | 51715 | 14263 | ORPHA:65759 | Carpenter syndrome | HP:0040282 - Frequent | | | 31 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 109 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611560 | Joubert syndrome 7 | . | | | 167 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 167 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 167 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611561 | Meckel syndrome, type 5 | . | | | 167 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | HP:0040282 - Frequent | | | 80 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | SCAPER CL E G H | 49855 | 13081 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | SCNM1 CL E G H | 79005 | 23136 | OMIM:620107 | | | | | | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | SDCCAG8 CL E G H | 10806 | 10671 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | . | | | 143 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | SMO CL E G H | 6608 | 11119 | OMIM:241800 | Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included | . | | | 22 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | SMOC1 CL E G H | 64093 | 20318 | OMIM:206920 | Microphthalmia with limb anomalies | . | | | 15 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | HP:0040282 - Frequent | | | 15 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | TBX3 CL E G H | 6926 | 11602 | ORPHA:3138 | Ulnar-mammary syndrome | HP:0040283 - Occasional | | | 100 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | . | | | 100 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 45 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | TCTN2 CL E G H | 79867 | 25774 | OMIM:616654 | Joubert syndrome 24 | . | | | 76 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 76 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 31 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | HP:0040281 - Very frequent | | | 31 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | TGFBR1 CL E G H | 7046 | 11772 | OMIM:609192 | Loeys-Dietz syndrome 1 | | | | 239 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | . | | | 6 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | TMEM107 CL E G H | 84314 | 28128 | OMIM:617563 | Orofaciodigital syndrome XVI | . | | | 4 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | . | | | 45 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 45 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | TMEM216 CL E G H | 51259 | 25018 | OMIM:603194 | Meckel syndrome, type 2 | . | | | 45 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2752 | Orofaciodigital syndrome type 3 | HP:0040282 - Frequent | | | 33 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 82 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:216360 | Coach syndrome 1 | | | | 166 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 166 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:607361 | Meckel syndrome 3 | . | | | 166 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | TRIM32 CL E G H | 22954 | 16380 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 108 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | TTC21B CL E G H | 79809 | 25660 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 132 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | TTC8 CL E G H | 123016 | 20087 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 41 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | TXNDC15 CL E G H | 79770 | 20652 | OMIM:619879 | | | | | 2 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | WDPCP CL E G H | 51057 | 28027 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 60 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | WDPCP CL E G H | 51057 | 28027 | OMIM:217085 | Congenital heart defects, hamartomas of tongue, and polysyndactyly | . | | | 60 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 95 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | . | | | 136 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | 136 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | WNT7A CL E G H | 7476 | 12786 | OMIM:228930 | Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly | | | | 13 | | |
HP:0001162 | HP:0001162 | Postaxial hand polydactyly | 0 | ZNF141 CL E G H | 7700 | 12926 | OMIM:615226 | Polydactyly, postaxial, type A6 | . | | | 3 | | |
HP:0001162 | HP:0005676 | Rudimentary postaxial polydactyly of hands | 1 | CL E G H | | | | | | | | | | |
HP:0001162 | HP:0006136 | Bilateral postaxial polydactyly | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040282 - Frequent | | | 270 | | |
HP:0001162 | HP:0005696 | Postaxial polydactyly type A | 1 | KIAA0825 CL E G H | 285600 | 28532 | OMIM:618498 | Polydactyly, postaxial, type A10 | | | | | | |
HP:0001162 | HP:0006136 | Bilateral postaxial polydactyly | 1 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0001162 | HP:0005696 | Postaxial polydactyly type A | 1 | WDPCP CL E G H | 51057 | 28027 | OMIM:217085 | Congenital heart defects, hamartomas of tongue, and polysyndactyly | | | | 60 | | |