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:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 29 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 28 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | B9D2 CL E G H | 80776 | 28636 | OMIM:614175 | Meckel syndrome, type 10 | | | | 34 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 114 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | BBS2 CL E G H | 583 | 967 | OMIM:615981 | Bardet-Biedl syndrome 2 | | | | 97 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | BBS9 CL E G H | 27241 | 30000 | OMIM:615986 | BARDET-BIEDL SYNDROME 9; BBS9 | | | | 119 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | BMP4 CL E G H | 652 | 1071 | ORPHA:139471 | Microphthalmia with brain and digit anomalies | HP:0040283 - Occasional | | | 38 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | HP:0040282 - Frequent | | | 27 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 247 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:612284 | Meckel syndrome, type 6 | | | | 247 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 4 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | CD96 CL E G H | 10225 | 16892 | OMIM:211750 | C syndrome | . | | | 83 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 342 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | CIBAR1 CL E G H | 137392 | 30452 | OMIM:618219 | POLYDACTYLY, POSTAXIAL, TYPE A9; PAPA9 | | | | | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 57 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | DDX59 CL E G H | 83479 | 25360 | ORPHA:2919 | Orofaciodigital syndrome type 5 | HP:0040281 - Very frequent | | | 2 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | DDX59 CL E G H | 83479 | 25360 | OMIM:174300 | Orofaciodigital syndrome V | . | | | 2 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040282 - Frequent | | | 159 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 304 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | DYNLT2B CL E G H | 255758 | 28482 | OMIM:617405 | Short-Rib thoracic dysplasia 17 with or without polydactyly | | | | | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | EVC CL E G H | 2121 | 3497 | OMIM:225500 | Ellis-Van creveld syndrome | . | | | 209 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | EVC CL E G H | 2121 | 3497 | OMIM:193530 | Weyers acrofacial dysostosis | . | | | 209 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | EVC2 CL E G H | 132884 | 19747 | OMIM:225500 | Ellis-Van creveld syndrome | . | | | 137 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | EVC2 CL E G H | 132884 | 19747 | OMIM:193530 | Weyers acrofacial dysostosis | . | | | 137 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:380 | Greig cephalopolysyndactyly syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:175700 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186000 | Synpolydactyly 1 | . | | | 25 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 148 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 48 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | IFT74 CL E G H | 80173 | 21424 | OMIM:617119 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 3 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | IFT80 CL E G H | 57560 | 29262 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | HP:0040283 - Occasional | | | 111 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | KIAA0825 CL E G H | 285600 | 28532 | OMIM:618498 | Polydactyly, postaxial, type A10 | | | | | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:614120 | Hydrolethalus syndrome 2 | | | | 167 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | LMBR1 CL E G H | 64327 | 13243 | OMIM:174500 | Polydactyly, preaxial II | | | | 106 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | MKKS CL E G H | 8195 | 7108 | ORPHA:2473 | McKusick-Kaufman syndrome | HP:0040283 - Occasional | | | 69 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 127 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | | | | 127 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | | | | 101 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | NPHP3 CL E G H | 27031 | 7907 | OMIM:267010 | MECKEL SYNDROME, TYPE 7; MKS7 | | | | 157 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | PDE6D CL E G H | 5147 | 8788 | OMIM:615665 | Joubert syndrome 22 | | | | 1 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | PLAA CL E G H | 9373 | 9043 | ORPHA:521426 | PLAA-associated neurodevelopmental disorder | HP:0040282 - Frequent | | | 3 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | PRKACB CL E G H | 5567 | 9381 | OMIM:619143 | CARDIOACROFACIAL DYSPLASIA 2; CAFD2 | | | | 2 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 109 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 167 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611561 | Meckel syndrome, type 5 | . | | | 167 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | HP:0040281 - Very frequent | | | 80 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | SCNM1 CL E G H | 79005 | 23136 | OMIM:620107 | | | | | | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | SETD5 CL E G H | 55209 | 25566 | ORPHA:404440 | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | HP:0040283 - Occasional | | | 43 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | SMO CL E G H | 6608 | 11119 | OMIM:241800 | Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included | | | | 22 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | HP:0040283 - Occasional | | | 15 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | SMOC1 CL E G H | 64093 | 20318 | OMIM:206920 | Microphthalmia with limb anomalies | . | | | 15 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 45 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 76 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 31 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | TMEM107 CL E G H | 84314 | 28128 | OMIM:617563 | Orofaciodigital syndrome XVI | | | | 4 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | | | | 45 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 45 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2752 | Orofaciodigital syndrome type 3 | HP:0040282 - Frequent | | | 33 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 82 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:607361 | Meckel syndrome 3 | | | | 166 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | TTC21B CL E G H | 79809 | 25660 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 132 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | TXNDC15 CL E G H | 79770 | 20652 | OMIM:619879 | | | | | 2 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 95 | | |
HP:0001830 | HP:0001830 | Postaxial foot polydactyly | 0 | ZNF141 CL E G H | 7700 | 12926 | OMIM:615226 | Polydactyly, postaxial, type A6 | | | | 3 | | |
HP:0001830 | HP:0005817 | Postaxial polysyndactyly of foot | 1 | DDX59 CL E G H | 83479 | 25360 | ORPHA:2919 | Orofaciodigital syndrome type 5 | HP:0040283 - Occasional | | | 2 | | |
HP:0001830 | HP:0005817 | Postaxial polysyndactyly of foot | 1 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | . | | | 101 | | |