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:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:457 | Harlequin ichthyosis | | | | 130 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | ACOX1 CL E G H | 51 | 119 | ORPHA:2971 | Peroxisomal acyl-CoA oxidase deficiency | | | | 120 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | | | | 72 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | | | | 123 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:475 | Joubert syndrome | | | | 175 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 175 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | AKT3 CL E G H | 10000 | 393 | OMIM:615937 | Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2 | | | | 19 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | AKT3 CL E G H | 10000 | 393 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | | | | 19 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | ALX3 CL E G H | 257 | 449 | OMIM:136760 | Frontonasal dysplasia 1 | | | | 9 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | ARL13B CL E G H | 200894 | 25419 | ORPHA:475 | Joubert syndrome | | | | 62 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | ARL3 CL E G H | 403 | 694 | ORPHA:475 | Joubert syndrome | | | | 1 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | ARL6 CL E G H | 84100 | 13210 | ORPHA:110 | Bardet-Biedl syndrome | | | | 29 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 29 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | ARMC9 CL E G H | 80210 | 20730 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | ARMC9 CL E G H | 80210 | 20730 | OMIM:617622 | JOUBERT SYNDROME 30; JBTS30 | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 1 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:475 | Joubert syndrome | | | | 28 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | | | | 28 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:475 | Joubert syndrome | | | | 34 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | | | | 34 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | B9D2 CL E G H | 80776 | 28636 | OMIM:614175 | Meckel syndrome, type 10 | | | | 34 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | BBIP1 CL E G H | 92482 | 28093 | ORPHA:110 | Bardet-Biedl syndrome | | | | 1 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | BBS1 CL E G H | 582 | 966 | ORPHA:110 | Bardet-Biedl syndrome | | | | 114 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 114 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | BBS10 CL E G H | 79738 | 26291 | ORPHA:110 | Bardet-Biedl syndrome | | | | 118 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | BBS12 CL E G H | 166379 | 26648 | ORPHA:110 | Bardet-Biedl syndrome | | | | 71 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | BBS2 CL E G H | 583 | 967 | ORPHA:110 | Bardet-Biedl syndrome | | | | 97 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | BBS2 CL E G H | 583 | 967 | OMIM:615981 | Bardet-Biedl syndrome 2 | | | | 97 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | BBS4 CL E G H | 585 | 969 | ORPHA:110 | Bardet-Biedl syndrome | | | | 87 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | BBS5 CL E G H | 129880 | 970 | ORPHA:110 | Bardet-Biedl syndrome | | | | 25 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | BBS7 CL E G H | 55212 | 18758 | ORPHA:110 | Bardet-Biedl syndrome | | | | 66 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | BBS9 CL E G H | 27241 | 30000 | ORPHA:110 | Bardet-Biedl syndrome | | | | 119 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | BBS9 CL E G H | 27241 | 30000 | OMIM:615986 | BARDET-BIEDL SYNDROME 9; BBS9 | | | | 119 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:568 | Microphthalmia, Lenz type | | | | 101 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | BHLHA9 CL E G H | 727857 | 35126 | ORPHA:3329 | Tibial aplasia-ectrodactyly syndrome | | | | 4 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | BLM CL E G H | 641 | 1058 | OMIM:210900 | Bloom syndrome | | | | 314 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | BMPR1B CL E G H | 658 | 1077 | ORPHA:2098 | Acromesomelic dysplasia, Grebe type | | | | 90 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93384 | Brachydactyly type C | | | | 90 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | | | | 27 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CBY1 CL E G H | 25776 | 1307 | ORPHA:475 | Joubert syndrome | | | | 1 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 247 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 247 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | | | | 247 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:612284 | Meckel syndrome, type 6 | | | | 247 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | | | | 33 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 4 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CCND2 CL E G H | 894 | 1583 | OMIM:615938 | Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3 | | | | 11 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CCND2 CL E G H | 894 | 1583 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | | | | 11 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CD96 CL E G H | 10225 | 16892 | OMIM:211750 | C syndrome | | | | 83 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | | | | 83 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CDC45 CL E G H | 8318 | 1739 | OMIM:617063 | Meier-Gorlin syndrome 7 | | | | 9 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CEP104 CL E G H | 9731 | 24866 | ORPHA:475 | Joubert syndrome | | | | 5 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:474 | Jeune syndrome | | | | 7 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:475 | Joubert syndrome | | | | 7 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 7 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CEP19 CL E G H | 84984 | 28209 | ORPHA:110 | Bardet-Biedl syndrome | | | | 1 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:110 | Bardet-Biedl syndrome | | | | 342 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 342 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | | | | 342 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CEP290 CL E G H | 80184 | 29021 | OMIM:611134 | Meckel syndrome, type 4 | | | | 342 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CEP41 CL E G H | 95681 | 12370 | ORPHA:475 | Joubert syndrome | | | | 90 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CEP41 CL E G H | 95681 | 12370 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 90 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:110 | Bardet-Biedl syndrome | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CFAP418 CL E G H | 157657 | 27232 | OMIM:617406 | Bardet-Biedl syndrome 21 | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | | | | 35 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CIBAR1 CL E G H | 137392 | 30452 | OMIM:618219 | POLYDACTYLY, POSTAXIAL, TYPE A9; PAPA9 | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 6 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:475 | Joubert syndrome | | | | 57 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | | | | 57 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | | | | 2 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | DDX59 CL E G H | 83479 | 25360 | ORPHA:2919 | Orofaciodigital syndrome type 5 | | | | 2 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | DDX59 CL E G H | 83479 | 25360 | OMIM:174300 | Orofaciodigital syndrome V | | | | 2 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | | | | 33 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 14 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:616331 | Robinow syndrome, autosomal dominant 2 | | | | 14 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:474 | Jeune syndrome | | | | 304 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 304 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:474 | Jeune syndrome | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:474 | Jeune syndrome | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:289 | Ellis Van Creveld syndrome | | | | 7 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:474 | Jeune syndrome | | | | 7 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | OMIM:617088 | Short-rib thoracic dysplasia 15 with polydactyly | | | | 7 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | DYNLT2B CL E G H | 255758 | 28482 | OMIM:617405 | Short-Rib thoracic dysplasia 17 with or without polydactyly | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | EBP CL E G H | 10682 | 3133 | ORPHA:401973 | MEND syndrome | | | | 51 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | EFNB1 CL E G H | 1947 | 3226 | ORPHA:1520 | Craniofrontonasal dysplasia | | | | 27 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | EFTUD2 CL E G H | 9343 | 30858 | OMIM:610536 | Mandibulofacial dysostosis, Guion-Almeida type | | | | 48 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | EFTUD2 CL E G H | 9343 | 30858 | ORPHA:79113 | Mandibulofacial dysostosis-microcephaly syndrome | | | | 48 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | | | | 92 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | EVC CL E G H | 2121 | 3497 | ORPHA:952 | Acrofacial dysostosis, Weyers type | | | | 209 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | EVC CL E G H | 2121 | 3497 | ORPHA:289 | Ellis Van Creveld syndrome | | | | 209 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | EVC CL E G H | 2121 | 3497 | OMIM:225500 | Ellis-Van creveld syndrome | | | | 209 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | EVC CL E G H | 2121 | 3497 | OMIM:193530 | Weyers acrofacial dysostosis | | | | 209 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | EVC2 CL E G H | 132884 | 19747 | ORPHA:952 | Acrofacial dysostosis, Weyers type | | | | 137 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | EVC2 CL E G H | 132884 | 19747 | ORPHA:289 | Ellis Van Creveld syndrome | | | | 137 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | EVC2 CL E G H | 132884 | 19747 | OMIM:225500 | Ellis-Van creveld syndrome | | | | 137 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | EVC2 CL E G H | 132884 | 19747 | OMIM:193530 | Weyers acrofacial dysostosis | | | | 137 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | FAM149B1 CL E G H | 317662 | 29162 | OMIM:618763 | JOUBERT SYNDROME 36; JBTS36 | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | FAM149B1 CL E G H | 317662 | 29162 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | FANCA CL E G H | 2175 | 3582 | OMIM:227650 | Fanconi anemia | | | | 340 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | FANCB CL E G H | 2187 | 3583 | OMIM:314390 | VACTERL association, X-linked | | | | 58 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | FANCC CL E G H | 2176 | 3584 | OMIM:227645 | Fanconi anemia, complementation group C | | | | 410 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | FANCE CL E G H | 2178 | 3586 | OMIM:600901 | Fanconi anemia, complementation group E | | | | 73 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | | | | 175 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | | | | 8 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:311300 | Otopalatodigital syndrome, type I | | | | 493 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:304120 | Otopalatodigital syndrome, type II | | | | 493 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:150250 | Larsen syndrome | | | | 233 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | FLNB CL E G H | 2317 | 3755 | ORPHA:503 | Larsen syndrome | | | | 233 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | | | | 29 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:2098 | Acromesomelic dysplasia, Grebe type | | | | 52 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93384 | Brachydactyly type C | | | | 52 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | | | | 52 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:200700 | Chondrodysplasia, Grebe type | | | | 52 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | | | | 68 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | GLI1 CL E G H | 2735 | 4317 | ORPHA:289 | Ellis Van Creveld syndrome | | | | 1 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | GLI1 CL E G H | 2735 | 4317 | OMIM:174400 | Polydactyly, preaxial I | | | | 1 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | | | | 173 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:36 | Acrocallosal syndrome | | | | 270 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:175700 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:380 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | | | | 270 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:174200 | Polydactyly, postaxial, type A1 | | | | 270 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:174700 | Polydactyly, preaxial IV | | | | 270 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 8 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | 73 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | HEATR3 CL E G H | 55027 | 26087 | OMIM:620072 | | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 21 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 3 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | HOXA13 CL E G H | 3209 | 5102 | ORPHA:2438 | Hand-foot-genital syndrome | | | | 11 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | HOXA13 CL E G H | 3209 | 5102 | OMIM:176305 | Preaxial deficiency, postaxial polydactyly, and hypospadias | | | | 11 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186000 | Synpolydactyly 1 | | | | 25 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:887 | VACTERL/VATER association | | | | 25 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:2189 | Hydrolethalus | | | | 31 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | HYLS1 CL E G H | 219844 | 26558 | OMIM:236680 | Hydrolethalus syndrome 1 | | | | 31 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:475 | Joubert syndrome | | | | 31 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:474 | Jeune syndrome | | | | 148 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:110 | Bardet-Biedl syndrome | | | | 48 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:619471 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 48 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:474 | Jeune syndrome | | | | 48 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:615630 | Short-Rib thoracic dysplasia 10 with or without polydactyly | | | | 48 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | IFT27 CL E G H | 11020 | 18626 | ORPHA:110 | Bardet-Biedl syndrome | | | | 1 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | IFT74 CL E G H | 80173 | 21424 | ORPHA:110 | Bardet-Biedl syndrome | | | | 3 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | IFT80 CL E G H | 57560 | 29262 | OMIM:611263 | Asphyxiating thoracic dystrophy 2 | | | | 65 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | IFT80 CL E G H | 57560 | 29262 | ORPHA:474 | Jeune syndrome | | | | 65 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | IFT80 CL E G H | 57560 | 29262 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 65 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:475 | Joubert syndrome | | | | 111 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | | | | 111 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 111 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 111 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | INTU CL E G H | 27152 | 29239 | OMIM:617926 | OROFACIODIGITAL SYNDROME XVII; OFD17 | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | | | | 119 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 2 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | KATNIP CL E G H | 23247 | 29068 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:475 | Joubert syndrome | | | | 24 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | KIAA0753 CL E G H | 9851 | 29110 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 4 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | KIAA0825 CL E G H | 285600 | 28532 | OMIM:618498 | Polydactyly, postaxial, type A10 | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:36 | Acrocallosal syndrome | | | | 167 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2189 | Hydrolethalus | | | | 167 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:614120 | Hydrolethalus syndrome 2 | | | | 167 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 167 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:1879 | Melorheostosis with osteopoikilosis | | | | 68 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 51 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 43 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | LMBR1 CL E G H | 64327 | 13243 | ORPHA:2378 | Laurin-Sandrow syndrome | | | | 106 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | LMBR1 CL E G H | 64327 | 13243 | OMIM:135750 | Laurin-Sandrow syndrome | | | | 106 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | LMBR1 CL E G H | 64327 | 13243 | OMIM:174500 | Polydactyly, preaxial II | | | | 106 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | LMBR1 CL E G H | 64327 | 13243 | ORPHA:93405 | Syndactyly type 4 | | | | 106 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | LZTFL1 CL E G H | 54585 | 6741 | ORPHA:110 | Bardet-Biedl syndrome | | | | 4 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | | | | 63 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | MAP3K20 CL E G H | 51776 | 17797 | OMIM:616890 | Split-Foot malformation with mesoaxial polydactyly | | | | 2 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:85284 | BRESEK syndrome | | | | 22 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | | | | 22 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | MEGF8 CL E G H | 1954 | 3233 | ORPHA:65759 | Carpenter syndrome | | | | 13 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | MKKS CL E G H | 8195 | 7108 | ORPHA:110 | Bardet-Biedl syndrome | | | | 69 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | MKKS CL E G H | 8195 | 7108 | OMIM:236700 | Mckusick-Kaufman syndrome | | | | 69 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | MKKS CL E G H | 8195 | 7108 | ORPHA:2473 | McKusick-Kaufman syndrome | | | | 69 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:110 | Bardet-Biedl syndrome | | | | 127 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:475 | Joubert syndrome | | | | 127 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 127 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | | | | 127 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | | | | 127 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | NAA10 CL E G H | 8260 | 18704 | ORPHA:568 | Microphthalmia, Lenz type | | | | 23 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | | | | 101 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | | | | 101 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:110 | Bardet-Biedl syndrome | | | | 85 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:220497 | Joubert syndrome with renal defect | | | | 85 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | NUP107 CL E G H | 57122 | 29914 | OMIM:618348 | Galloway-Mowat syndrome 7 | | | | 5 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | NUP107 CL E G H | 57122 | 29914 | OMIM:616730 | Nephrotic syndrome, type 11 | | | | 5 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | | | | 201 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 201 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | PAH CL E G H | 5053 | 8582 | ORPHA:2209 | Maternal phenylketonuria | | | | 641 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | PDE6D CL E G H | 5147 | 8788 | OMIM:615665 | Joubert syndrome 22 | | | | 1 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | PDE6D CL E G H | 5147 | 8788 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 1 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | PHF8 CL E G H | 23133 | 20672 | ORPHA:85287 | X-linked intellectual disability, Siderius type | | | | 23 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | PIBF1 CL E G H | 10464 | 23352 | ORPHA:475 | Joubert syndrome | | | | 4 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 7 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:60040 | Megalencephaly-capillary malformation-polymicrogyria syndrome | | | | 162 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | PIK3R2 CL E G H | 5296 | 8980 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | | | | 12 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | PLAA CL E G H | 9373 | 9043 | ORPHA:521426 | PLAA-associated neurodevelopmental disorder | | | | 3 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:2377 | Laurence-Moon syndrome | | | | 103 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | | | | 20 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | | | | 20 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 36 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | PRKACA CL E G H | 5566 | 9380 | ORPHA:289 | Ellis Van Creveld syndrome | | | | 2 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | PRKACB CL E G H | 5567 | 9381 | OMIM:619143 | CARDIOACROFACIAL DYSPLASIA 2; CAFD2 | | | | 2 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | PRKACB CL E G H | 5567 | 9381 | ORPHA:289 | Ellis Van Creveld syndrome | | | | 2 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 54 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:65285 | Lhermitte-Duclos disease | | | | 948 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | | | | 19 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | RAB23 CL E G H | 51715 | 14263 | ORPHA:65759 | Carpenter syndrome | | | | 31 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | | | | 150 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | | | | 16 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | | | | 120 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | | | | 109 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611560 | Joubert syndrome 7 | | | | 167 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 167 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:220497 | Joubert syndrome with renal defect | | | | 167 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | | | | 167 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611561 | Meckel syndrome, type 5 | | | | 167 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | | | | 11 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | | | | 40 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | | | | 26 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | | | | 5 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | | | | 42 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | | | | 42 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | | | | 20 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | | | | 20 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | | | | 124 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | | | | 124 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | | | | 86 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | | | | 86 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:2307 | IVIC syndrome | | | | 86 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | | | | 80 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | SCAPER CL E G H | 49855 | 13081 | ORPHA:110 | Bardet-Biedl syndrome | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | SCNM1 CL E G H | 79005 | 23136 | OMIM:620107 | | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | SDCCAG8 CL E G H | 10806 | 10671 | ORPHA:110 | Bardet-Biedl syndrome | | | | 61 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | | | | 143 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | | | | 2 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261197 | Proximal 16p11.2 microdeletion syndrome | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93405 | Syndactyly type 4 | | | | 67 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | SHMT2 CL E G H | 6472 | 10852 | OMIM:619121 | NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | SMO CL E G H | 6608 | 11119 | OMIM:601707 | Curry-Jones syndrome | | | | 22 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:1553 | Curry-Jones syndrome | | | | 22 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | SMO CL E G H | 6608 | 11119 | OMIM:241800 | Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included | | | | 22 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | | | | 15 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | SMOC1 CL E G H | 64093 | 20318 | OMIM:206920 | Microphthalmia with limb anomalies | | | | 15 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:475 | Joubert syndrome | | | | 124 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 32 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | | | | 100 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TBX3 CL E G H | 6926 | 11602 | ORPHA:3138 | Ulnar-mammary syndrome | | | | 100 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TBX5 CL E G H | 6910 | 11604 | OMIM:142900 | Holt-Oram syndrome | | | | 123 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:475 | Joubert syndrome | | | | 45 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | | | | 45 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:475 | Joubert syndrome | | | | 76 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TCTN2 CL E G H | 79867 | 25774 | OMIM:616654 | Joubert syndrome 24 | | | | 76 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | | | | 76 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | | | | 31 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TCTN3 CL E G H | 26123 | 24519 | OMIM:258860 | Orofaciodigital syndrome IV | | | | 31 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | | | | 31 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 31 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TFAP2A CL E G H | 7020 | 11742 | ORPHA:1297 | Branchio-oculo-facial syndrome | | | | 12 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | | | | 12 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TFAP2B CL E G H | 7021 | 11743 | ORPHA:46627 | Char syndrome | | | | 104 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TGFBR1 CL E G H | 7046 | 11772 | OMIM:609192 | Loeys-Dietz syndrome 1 | | | | 239 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | | | | 4 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TMEM107 CL E G H | 84314 | 28128 | OMIM:617563 | Orofaciodigital syndrome XVI | | | | 4 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TMEM138 CL E G H | 51524 | 26944 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 39 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | | | | 45 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 45 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | | | | 45 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TMEM216 CL E G H | 51259 | 25018 | OMIM:603194 | Meckel syndrome, type 2 | | | | 45 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 45 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TMEM218 CL E G H | 219854 | 27344 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 33 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | | | | 33 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2752 | Orofaciodigital syndrome type 3 | | | | 33 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:475 | Joubert syndrome | | | | 82 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 82 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:220497 | Joubert syndrome with renal defect | | | | 82 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | | | | 82 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:216360 | Coach syndrome 1 | | | | 166 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:475 | Joubert syndrome | | | | 166 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 166 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | | | | 166 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:607361 | Meckel syndrome 3 | | | | 166 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TOGARAM1 CL E G H | 23116 | 19959 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TOPORS CL E G H | 10210 | 21653 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 61 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TRIM32 CL E G H | 22954 | 16380 | ORPHA:110 | Bardet-Biedl syndrome | | | | 108 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TTC21B CL E G H | 79809 | 25660 | ORPHA:474 | Jeune syndrome | | | | 132 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TTC8 CL E G H | 123016 | 20087 | ORPHA:110 | Bardet-Biedl syndrome | | | | 41 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TXNDC15 CL E G H | 79770 | 20652 | OMIM:619879 | | | | | 2 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | | | | 2 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | UBE2T CL E G H | 29089 | 25009 | OMIM:616435 | Fanconi anemia, complementation group T | | | | 2 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | | | | 83 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | WDPCP CL E G H | 51057 | 28027 | ORPHA:110 | Bardet-Biedl syndrome | | | | 60 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | WDPCP CL E G H | 51057 | 28027 | OMIM:217085 | Congenital heart defects, hamartomas of tongue, and polysyndactyly | | | | 60 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:474 | Jeune syndrome | | | | 95 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | | | | 136 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 136 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 98 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | WNT7A CL E G H | 7476 | 12786 | OMIM:228930 | Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly | | | | 13 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | ZIC3 CL E G H | 7547 | 12874 | OMIM:314390 | VACTERL association, X-linked | | | | 39 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | ZNF141 CL E G H | 7700 | 12926 | OMIM:615226 | Polydactyly, postaxial, type A6 | | | | 3 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | ZNF423 CL E G H | 23090 | 16762 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 49 | | |
HP:0009142 | HP:0009142 | Duplication of bones involving the upper extremities | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:457 | Harlequin ichthyosis | | | | 130 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | ACOX1 CL E G H | 51 | 119 | ORPHA:2971 | Peroxisomal acyl-CoA oxidase deficiency | | | | 120 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | | | | 72 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | | | | 123 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | AHI1 CL E G H | 54806 | 21575 | ORPHA:475 | Joubert syndrome | | | | 175 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | AHI1 CL E G H | 54806 | 21575 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 175 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | AKT3 CL E G H | 10000 | 393 | OMIM:615937 | Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2 | | | | 19 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | AKT3 CL E G H | 10000 | 393 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | | | | 19 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | ALX3 CL E G H | 257 | 449 | OMIM:136760 | Frontonasal dysplasia 1 | | | | 9 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | ARL13B CL E G H | 200894 | 25419 | ORPHA:475 | Joubert syndrome | | | | 62 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | ARL3 CL E G H | 403 | 694 | ORPHA:475 | Joubert syndrome | | | | 1 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | ARL6 CL E G H | 84100 | 13210 | ORPHA:110 | Bardet-Biedl syndrome | | | | 29 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 29 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | ARMC9 CL E G H | 80210 | 20730 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | ARMC9 CL E G H | 80210 | 20730 | OMIM:617622 | JOUBERT SYNDROME 30; JBTS30 | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 1 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | B9D1 CL E G H | 27077 | 24123 | ORPHA:475 | Joubert syndrome | | | | 28 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | | | | 28 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | B9D2 CL E G H | 80776 | 28636 | ORPHA:475 | Joubert syndrome | | | | 34 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | | | | 34 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | B9D2 CL E G H | 80776 | 28636 | OMIM:614175 | Meckel syndrome, type 10 | | | | 34 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | BBIP1 CL E G H | 92482 | 28093 | ORPHA:110 | Bardet-Biedl syndrome | | | | 1 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | BBS1 CL E G H | 582 | 966 | ORPHA:110 | Bardet-Biedl syndrome | | | | 114 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 114 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | BBS10 CL E G H | 79738 | 26291 | ORPHA:110 | Bardet-Biedl syndrome | | | | 118 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | BBS12 CL E G H | 166379 | 26648 | ORPHA:110 | Bardet-Biedl syndrome | | | | 71 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | BBS2 CL E G H | 583 | 967 | ORPHA:110 | Bardet-Biedl syndrome | | | | 97 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | BBS2 CL E G H | 583 | 967 | OMIM:615981 | Bardet-Biedl syndrome 2 | | | | 97 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | BBS4 CL E G H | 585 | 969 | ORPHA:110 | Bardet-Biedl syndrome | | | | 87 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | BBS5 CL E G H | 129880 | 970 | ORPHA:110 | Bardet-Biedl syndrome | | | | 25 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | BBS7 CL E G H | 55212 | 18758 | ORPHA:110 | Bardet-Biedl syndrome | | | | 66 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | BBS9 CL E G H | 27241 | 30000 | ORPHA:110 | Bardet-Biedl syndrome | | | | 119 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | BBS9 CL E G H | 27241 | 30000 | OMIM:615986 | BARDET-BIEDL SYNDROME 9; BBS9 | | | | 119 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | BCOR CL E G H | 54880 | 20893 | ORPHA:568 | Microphthalmia, Lenz type | | | | 101 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | BHLHA9 CL E G H | 727857 | 35126 | ORPHA:3329 | Tibial aplasia-ectrodactyly syndrome | | | | 4 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | BLM CL E G H | 641 | 1058 | OMIM:210900 | Bloom syndrome | | | | 314 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | BMPR1B CL E G H | 658 | 1077 | ORPHA:2098 | Acromesomelic dysplasia, Grebe type | | | | 90 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93384 | Brachydactyly type C | | | | 90 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | | | | 27 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CBY1 CL E G H | 25776 | 1307 | ORPHA:475 | Joubert syndrome | | | | 1 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 247 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 247 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | | | | 247 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CC2D2A CL E G H | 57545 | 29253 | OMIM:612284 | Meckel syndrome, type 6 | | | | 247 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | | | | 33 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 4 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CCND2 CL E G H | 894 | 1583 | OMIM:615938 | Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3 | | | | 11 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CCND2 CL E G H | 894 | 1583 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | | | | 11 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CD96 CL E G H | 10225 | 16892 | OMIM:211750 | C syndrome | | | | 83 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | | | | 83 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CDC45 CL E G H | 8318 | 1739 | OMIM:617063 | Meier-Gorlin syndrome 7 | | | | 9 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CEP104 CL E G H | 9731 | 24866 | ORPHA:475 | Joubert syndrome | | | | 5 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CEP120 CL E G H | 153241 | 26690 | ORPHA:474 | Jeune syndrome | | | | 7 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CEP120 CL E G H | 153241 | 26690 | ORPHA:475 | Joubert syndrome | | | | 7 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CEP120 CL E G H | 153241 | 26690 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 7 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CEP19 CL E G H | 84984 | 28209 | ORPHA:110 | Bardet-Biedl syndrome | | | | 1 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CEP290 CL E G H | 80184 | 29021 | ORPHA:110 | Bardet-Biedl syndrome | | | | 342 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CEP290 CL E G H | 80184 | 29021 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 342 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | | | | 342 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CEP290 CL E G H | 80184 | 29021 | OMIM:611134 | Meckel syndrome, type 4 | | | | 342 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CEP41 CL E G H | 95681 | 12370 | ORPHA:475 | Joubert syndrome | | | | 90 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CEP41 CL E G H | 95681 | 12370 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 90 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:110 | Bardet-Biedl syndrome | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CFAP418 CL E G H | 157657 | 27232 | OMIM:617406 | Bardet-Biedl syndrome 21 | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | | | | 35 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CIBAR1 CL E G H | 137392 | 30452 | OMIM:618219 | POLYDACTYLY, POSTAXIAL, TYPE A9; PAPA9 | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 6 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:475 | Joubert syndrome | | | | 57 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | | | | 57 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | | | | 2 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | DDX59 CL E G H | 83479 | 25360 | ORPHA:2919 | Orofaciodigital syndrome type 5 | | | | 2 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | DDX59 CL E G H | 83479 | 25360 | OMIM:174300 | Orofaciodigital syndrome V | | | | 2 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | | | | 33 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 14 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | DVL1 CL E G H | 1855 | 3084 | OMIM:616331 | Robinow syndrome, autosomal dominant 2 | | | | 14 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:474 | Jeune syndrome | | | | 304 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 304 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:474 | Jeune syndrome | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:474 | Jeune syndrome | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:289 | Ellis Van Creveld syndrome | | | | 7 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:474 | Jeune syndrome | | | | 7 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | DYNC2LI1 CL E G H | 51626 | 24595 | OMIM:617088 | Short-rib thoracic dysplasia 15 with polydactyly | | | | 7 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | DYNLT2B CL E G H | 255758 | 28482 | OMIM:617405 | Short-Rib thoracic dysplasia 17 with or without polydactyly | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | EBP CL E G H | 10682 | 3133 | ORPHA:401973 | MEND syndrome | | | | 51 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | EFNB1 CL E G H | 1947 | 3226 | ORPHA:1520 | Craniofrontonasal dysplasia | | | | 27 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | EFTUD2 CL E G H | 9343 | 30858 | OMIM:610536 | Mandibulofacial dysostosis, Guion-Almeida type | | | | 48 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | EFTUD2 CL E G H | 9343 | 30858 | ORPHA:79113 | Mandibulofacial dysostosis-microcephaly syndrome | | | | 48 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | | | | 92 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | EVC CL E G H | 2121 | 3497 | ORPHA:952 | Acrofacial dysostosis, Weyers type | | | | 209 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | EVC CL E G H | 2121 | 3497 | ORPHA:289 | Ellis Van Creveld syndrome | | | | 209 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | EVC CL E G H | 2121 | 3497 | OMIM:225500 | Ellis-Van creveld syndrome | | | | 209 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | EVC CL E G H | 2121 | 3497 | OMIM:193530 | Weyers acrofacial dysostosis | | | | 209 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | EVC2 CL E G H | 132884 | 19747 | ORPHA:952 | Acrofacial dysostosis, Weyers type | | | | 137 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | EVC2 CL E G H | 132884 | 19747 | ORPHA:289 | Ellis Van Creveld syndrome | | | | 137 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | EVC2 CL E G H | 132884 | 19747 | OMIM:225500 | Ellis-Van creveld syndrome | | | | 137 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | EVC2 CL E G H | 132884 | 19747 | OMIM:193530 | Weyers acrofacial dysostosis | | | | 137 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | FAM149B1 CL E G H | 317662 | 29162 | OMIM:618763 | JOUBERT SYNDROME 36; JBTS36 | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | FAM149B1 CL E G H | 317662 | 29162 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | FANCA CL E G H | 2175 | 3582 | OMIM:227650 | Fanconi anemia | | | | 340 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | FANCB CL E G H | 2187 | 3583 | OMIM:314390 | VACTERL association, X-linked | | | | 58 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | FANCC CL E G H | 2176 | 3584 | OMIM:227645 | Fanconi anemia, complementation group C | | | | 410 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | FANCE CL E G H | 2178 | 3586 | OMIM:600901 | Fanconi anemia, complementation group E | | | | 73 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | | | | 175 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | | | | 8 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:311300 | Otopalatodigital syndrome, type I | | | | 493 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:304120 | Otopalatodigital syndrome, type II | | | | 493 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | FLNB CL E G H | 2317 | 3755 | OMIM:150250 | Larsen syndrome | | | | 233 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | FLNB CL E G H | 2317 | 3755 | ORPHA:503 | Larsen syndrome | | | | 233 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | | | | 29 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | GDF5 CL E G H | 8200 | 4220 | ORPHA:2098 | Acromesomelic dysplasia, Grebe type | | | | 52 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93384 | Brachydactyly type C | | | | 52 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | | | | 52 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:200700 | Chondrodysplasia, Grebe type | | | | 52 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | | | | 68 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | GLI1 CL E G H | 2735 | 4317 | ORPHA:289 | Ellis Van Creveld syndrome | | | | 1 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | GLI1 CL E G H | 2735 | 4317 | OMIM:174400 | Polydactyly, preaxial I | | | | 1 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | | | | 173 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:36 | Acrocallosal syndrome | | | | 270 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:380 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | GLI3 CL E G H | 2737 | 4319 | OMIM:175700 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | | | | 270 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | GLI3 CL E G H | 2737 | 4319 | OMIM:174200 | Polydactyly, postaxial, type A1 | | | | 270 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | GLI3 CL E G H | 2737 | 4319 | OMIM:174700 | Polydactyly, preaxial IV | | | | 270 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 8 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | 73 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | HEATR3 CL E G H | 55027 | 26087 | OMIM:620072 | | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 21 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 3 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | HOXA13 CL E G H | 3209 | 5102 | ORPHA:2438 | Hand-foot-genital syndrome | | | | 11 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | HOXA13 CL E G H | 3209 | 5102 | OMIM:176305 | Preaxial deficiency, postaxial polydactyly, and hypospadias | | | | 11 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186000 | Synpolydactyly 1 | | | | 25 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:887 | VACTERL/VATER association | | | | 25 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:2189 | Hydrolethalus | | | | 31 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | HYLS1 CL E G H | 219844 | 26558 | OMIM:236680 | Hydrolethalus syndrome 1 | | | | 31 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:475 | Joubert syndrome | | | | 31 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | IFT140 CL E G H | 9742 | 29077 | ORPHA:474 | Jeune syndrome | | | | 148 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | IFT172 CL E G H | 26160 | 30391 | ORPHA:110 | Bardet-Biedl syndrome | | | | 48 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | IFT172 CL E G H | 26160 | 30391 | OMIM:619471 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 48 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | IFT172 CL E G H | 26160 | 30391 | ORPHA:474 | Jeune syndrome | | | | 48 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | IFT172 CL E G H | 26160 | 30391 | OMIM:615630 | Short-Rib thoracic dysplasia 10 with or without polydactyly | | | | 48 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | IFT27 CL E G H | 11020 | 18626 | ORPHA:110 | Bardet-Biedl syndrome | | | | 1 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | IFT74 CL E G H | 80173 | 21424 | ORPHA:110 | Bardet-Biedl syndrome | | | | 3 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | IFT80 CL E G H | 57560 | 29262 | OMIM:611263 | Asphyxiating thoracic dystrophy 2 | | | | 65 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | IFT80 CL E G H | 57560 | 29262 | ORPHA:474 | Jeune syndrome | | | | 65 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | IFT80 CL E G H | 57560 | 29262 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 65 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | INPP5E CL E G H | 56623 | 21474 | ORPHA:475 | Joubert syndrome | | | | 111 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | | | | 111 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 111 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | INPP5E CL E G H | 56623 | 21474 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 111 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | INTU CL E G H | 27152 | 29239 | OMIM:617926 | OROFACIODIGITAL SYNDROME XVII; OFD17 | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | | | | 119 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 2 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | KATNIP CL E G H | 23247 | 29068 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:475 | Joubert syndrome | | | | 24 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | KIAA0753 CL E G H | 9851 | 29110 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 4 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | KIAA0825 CL E G H | 285600 | 28532 | OMIM:618498 | Polydactyly, postaxial, type A10 | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | KIF7 CL E G H | 374654 | 30497 | ORPHA:36 | Acrocallosal syndrome | | | | 167 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2189 | Hydrolethalus | | | | 167 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | KIF7 CL E G H | 374654 | 30497 | OMIM:614120 | Hydrolethalus syndrome 2 | | | | 167 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 167 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:1879 | Melorheostosis with osteopoikilosis | | | | 68 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 51 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 43 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | LMBR1 CL E G H | 64327 | 13243 | ORPHA:2378 | Laurin-Sandrow syndrome | | | | 106 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | LMBR1 CL E G H | 64327 | 13243 | OMIM:135750 | Laurin-Sandrow syndrome | | | | 106 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | LMBR1 CL E G H | 64327 | 13243 | OMIM:174500 | Polydactyly, preaxial II | | | | 106 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | LMBR1 CL E G H | 64327 | 13243 | ORPHA:93405 | Syndactyly type 4 | | | | 106 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | LZTFL1 CL E G H | 54585 | 6741 | ORPHA:110 | Bardet-Biedl syndrome | | | | 4 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | | | | 63 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | MAP3K20 CL E G H | 51776 | 17797 | OMIM:616890 | Split-Foot malformation with mesoaxial polydactyly | | | | 2 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:85284 | BRESEK syndrome | | | | 22 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | | | | 22 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | MEGF8 CL E G H | 1954 | 3233 | ORPHA:65759 | Carpenter syndrome | | | | 13 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | MKKS CL E G H | 8195 | 7108 | ORPHA:110 | Bardet-Biedl syndrome | | | | 69 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | MKKS CL E G H | 8195 | 7108 | OMIM:236700 | Mckusick-Kaufman syndrome | | | | 69 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | MKKS CL E G H | 8195 | 7108 | ORPHA:2473 | McKusick-Kaufman syndrome | | | | 69 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | MKS1 CL E G H | 54903 | 7121 | ORPHA:110 | Bardet-Biedl syndrome | | | | 127 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | MKS1 CL E G H | 54903 | 7121 | ORPHA:475 | Joubert syndrome | | | | 127 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | MKS1 CL E G H | 54903 | 7121 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 127 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | | | | 127 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | | | | 127 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | NAA10 CL E G H | 8260 | 18704 | ORPHA:568 | Microphthalmia, Lenz type | | | | 23 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | | | | 101 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | | | | 101 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:110 | Bardet-Biedl syndrome | | | | 85 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:220497 | Joubert syndrome with renal defect | | | | 85 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | NUP107 CL E G H | 57122 | 29914 | OMIM:618348 | Galloway-Mowat syndrome 7 | | | | 5 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | NUP107 CL E G H | 57122 | 29914 | OMIM:616730 | Nephrotic syndrome, type 11 | | | | 5 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | | | | 201 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 201 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | PAH CL E G H | 5053 | 8582 | ORPHA:2209 | Maternal phenylketonuria | | | | 641 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | PDE6D CL E G H | 5147 | 8788 | OMIM:615665 | Joubert syndrome 22 | | | | 1 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | PDE6D CL E G H | 5147 | 8788 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 1 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | PHF8 CL E G H | 23133 | 20672 | ORPHA:85287 | X-linked intellectual disability, Siderius type | | | | 23 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | PIBF1 CL E G H | 10464 | 23352 | ORPHA:475 | Joubert syndrome | | | | 4 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 7 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:60040 | Megalencephaly-capillary malformation-polymicrogyria syndrome | | | | 162 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | PIK3R2 CL E G H | 5296 | 8980 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | | | | 12 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | PLAA CL E G H | 9373 | 9043 | ORPHA:521426 | PLAA-associated neurodevelopmental disorder | | | | 3 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:2377 | Laurence-Moon syndrome | | | | 103 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | | | | 20 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | | | | 20 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 36 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | PRKACA CL E G H | 5566 | 9380 | ORPHA:289 | Ellis Van Creveld syndrome | | | | 2 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | PRKACB CL E G H | 5567 | 9381 | OMIM:619143 | CARDIOACROFACIAL DYSPLASIA 2; CAFD2 | | | | 2 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | PRKACB CL E G H | 5567 | 9381 | ORPHA:289 | Ellis Van Creveld syndrome | | | | 2 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 54 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:65285 | Lhermitte-Duclos disease | | | | 948 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | | | | 19 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | RAB23 CL E G H | 51715 | 14263 | ORPHA:65759 | Carpenter syndrome | | | | 31 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | | | | 150 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | | | | 16 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | | | | 120 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | | | | 109 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611560 | Joubert syndrome 7 | | | | 167 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 167 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:220497 | Joubert syndrome with renal defect | | | | 167 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | | | | 167 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611561 | Meckel syndrome, type 5 | | | | 167 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | | | | 11 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | | | | 40 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | | | | 26 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | | | | 5 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | | | | 42 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | | | | 42 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | | | | 20 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | | | | 20 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | | | | 124 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | | | | 124 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | | | | 86 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | | | | 86 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:2307 | IVIC syndrome | | | | 86 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | | | | 80 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | SCAPER CL E G H | 49855 | 13081 | ORPHA:110 | Bardet-Biedl syndrome | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | SCNM1 CL E G H | 79005 | 23136 | OMIM:620107 | | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | SDCCAG8 CL E G H | 10806 | 10671 | ORPHA:110 | Bardet-Biedl syndrome | | | | 61 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | | | | 143 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | | | | 2 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261197 | Proximal 16p11.2 microdeletion syndrome | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:93405 | Syndactyly type 4 | | | | 67 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | SHMT2 CL E G H | 6472 | 10852 | OMIM:619121 | NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | SMO CL E G H | 6608 | 11119 | OMIM:601707 | Curry-Jones syndrome | | | | 22 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | SMO CL E G H | 6608 | 11119 | ORPHA:1553 | Curry-Jones syndrome | | | | 22 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | SMO CL E G H | 6608 | 11119 | OMIM:241800 | Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included | | | | 22 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | SMOC1 CL E G H | 64093 | 20318 | OMIM:206920 | Microphthalmia with limb anomalies | | | | 15 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | | | | 15 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:475 | Joubert syndrome | | | | 124 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 32 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TBX3 CL E G H | 6926 | 11602 | ORPHA:3138 | Ulnar-mammary syndrome | | | | 100 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | | | | 100 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TBX5 CL E G H | 6910 | 11604 | OMIM:142900 | Holt-Oram syndrome | | | | 123 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:475 | Joubert syndrome | | | | 45 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | | | | 45 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:475 | Joubert syndrome | | | | 76 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TCTN2 CL E G H | 79867 | 25774 | OMIM:616654 | Joubert syndrome 24 | | | | 76 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | | | | 76 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | | | | 31 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TCTN3 CL E G H | 26123 | 24519 | OMIM:258860 | Orofaciodigital syndrome IV | | | | 31 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | | | | 31 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 31 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TFAP2A CL E G H | 7020 | 11742 | ORPHA:1297 | Branchio-oculo-facial syndrome | | | | 12 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | | | | 12 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TFAP2B CL E G H | 7021 | 11743 | ORPHA:46627 | Char syndrome | | | | 104 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TGFBR1 CL E G H | 7046 | 11772 | OMIM:609192 | Loeys-Dietz syndrome 1 | | | | 239 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | | | | 4 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TMEM107 CL E G H | 84314 | 28128 | OMIM:617563 | Orofaciodigital syndrome XVI | | | | 4 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TMEM138 CL E G H | 51524 | 26944 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 39 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | | | | 45 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 45 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | | | | 45 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TMEM216 CL E G H | 51259 | 25018 | OMIM:603194 | Meckel syndrome, type 2 | | | | 45 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 45 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TMEM218 CL E G H | 219854 | 27344 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 33 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | | | | 33 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2752 | Orofaciodigital syndrome type 3 | | | | 33 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:475 | Joubert syndrome | | | | 82 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 82 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:220497 | Joubert syndrome with renal defect | | | | 82 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | | | | 82 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TMEM67 CL E G H | 91147 | 28396 | OMIM:216360 | Coach syndrome 1 | | | | 166 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:475 | Joubert syndrome | | | | 166 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 166 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | | | | 166 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TMEM67 CL E G H | 91147 | 28396 | OMIM:607361 | Meckel syndrome 3 | | | | 166 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TOGARAM1 CL E G H | 23116 | 19959 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TOPORS CL E G H | 10210 | 21653 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 61 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TRIM32 CL E G H | 22954 | 16380 | ORPHA:110 | Bardet-Biedl syndrome | | | | 108 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TTC21B CL E G H | 79809 | 25660 | ORPHA:474 | Jeune syndrome | | | | 132 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TTC8 CL E G H | 123016 | 20087 | ORPHA:110 | Bardet-Biedl syndrome | | | | 41 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TXNDC15 CL E G H | 79770 | 20652 | OMIM:619879 | | | | | 2 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | | | | 2 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | UBE2T CL E G H | 29089 | 25009 | OMIM:616435 | Fanconi anemia, complementation group T | | | | 2 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | | | | 83 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | WDPCP CL E G H | 51057 | 28027 | ORPHA:110 | Bardet-Biedl syndrome | | | | 60 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | WDPCP CL E G H | 51057 | 28027 | OMIM:217085 | Congenital heart defects, hamartomas of tongue, and polysyndactyly | | | | 60 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | WDR19 CL E G H | 57728 | 18340 | ORPHA:474 | Jeune syndrome | | | | 95 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | | | | 136 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | WDR35 CL E G H | 57539 | 29250 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 136 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 98 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | WNT7A CL E G H | 7476 | 12786 | OMIM:228930 | Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly | | | | 13 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | ZIC3 CL E G H | 7547 | 12874 | OMIM:314390 | VACTERL association, X-linked | | | | 39 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | ZNF141 CL E G H | 7700 | 12926 | OMIM:615226 | Polydactyly, postaxial, type A6 | | | | 3 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | ZNF423 CL E G H | 23090 | 16762 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 49 | | |
HP:0009142 | HP:0004275 | Duplication of hand bones | 1 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:457 | Harlequin ichthyosis | | | | 130 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | ACOX1 CL E G H | 51 | 119 | ORPHA:2971 | Peroxisomal acyl-CoA oxidase deficiency | | | | 120 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | | | | 72 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | | | | 123 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | AHI1 CL E G H | 54806 | 21575 | ORPHA:475 | Joubert syndrome | | | | 175 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | AHI1 CL E G H | 54806 | 21575 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 175 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | AKT3 CL E G H | 10000 | 393 | OMIM:615937 | Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2 | | | | 19 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | AKT3 CL E G H | 10000 | 393 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | | | | 19 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | ALX3 CL E G H | 257 | 449 | OMIM:136760 | Frontonasal dysplasia 1 | | | | 9 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | ARL13B CL E G H | 200894 | 25419 | ORPHA:475 | Joubert syndrome | | | | 62 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | ARL3 CL E G H | 403 | 694 | ORPHA:475 | Joubert syndrome | | | | 1 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | ARL6 CL E G H | 84100 | 13210 | ORPHA:110 | Bardet-Biedl syndrome | | | | 29 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 29 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | ARMC9 CL E G H | 80210 | 20730 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | ARMC9 CL E G H | 80210 | 20730 | OMIM:617622 | JOUBERT SYNDROME 30; JBTS30 | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 1 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | B9D1 CL E G H | 27077 | 24123 | ORPHA:475 | Joubert syndrome | | | | 28 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | | | | 28 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | B9D2 CL E G H | 80776 | 28636 | ORPHA:475 | Joubert syndrome | | | | 34 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | | | | 34 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | B9D2 CL E G H | 80776 | 28636 | OMIM:614175 | Meckel syndrome, type 10 | | | | 34 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | BBIP1 CL E G H | 92482 | 28093 | ORPHA:110 | Bardet-Biedl syndrome | | | | 1 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | BBS1 CL E G H | 582 | 966 | ORPHA:110 | Bardet-Biedl syndrome | | | | 114 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 114 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | BBS10 CL E G H | 79738 | 26291 | ORPHA:110 | Bardet-Biedl syndrome | | | | 118 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | BBS12 CL E G H | 166379 | 26648 | ORPHA:110 | Bardet-Biedl syndrome | | | | 71 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | BBS2 CL E G H | 583 | 967 | ORPHA:110 | Bardet-Biedl syndrome | | | | 97 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | BBS2 CL E G H | 583 | 967 | OMIM:615981 | Bardet-Biedl syndrome 2 | | | | 97 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | BBS4 CL E G H | 585 | 969 | ORPHA:110 | Bardet-Biedl syndrome | | | | 87 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | BBS5 CL E G H | 129880 | 970 | ORPHA:110 | Bardet-Biedl syndrome | | | | 25 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | BBS7 CL E G H | 55212 | 18758 | ORPHA:110 | Bardet-Biedl syndrome | | | | 66 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | BBS9 CL E G H | 27241 | 30000 | ORPHA:110 | Bardet-Biedl syndrome | | | | 119 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | BBS9 CL E G H | 27241 | 30000 | OMIM:615986 | BARDET-BIEDL SYNDROME 9; BBS9 | | | | 119 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | BCOR CL E G H | 54880 | 20893 | ORPHA:568 | Microphthalmia, Lenz type | | | | 101 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | BHLHA9 CL E G H | 727857 | 35126 | ORPHA:3329 | Tibial aplasia-ectrodactyly syndrome | | | | 4 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | BLM CL E G H | 641 | 1058 | OMIM:210900 | Bloom syndrome | | | | 314 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | BMPR1B CL E G H | 658 | 1077 | ORPHA:2098 | Acromesomelic dysplasia, Grebe type | | | | 90 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93384 | Brachydactyly type C | | | | 90 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | | | | 27 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CBY1 CL E G H | 25776 | 1307 | ORPHA:475 | Joubert syndrome | | | | 1 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 247 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 247 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | | | | 247 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CC2D2A CL E G H | 57545 | 29253 | OMIM:612284 | Meckel syndrome, type 6 | | | | 247 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | | | | 33 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 4 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CCND2 CL E G H | 894 | 1583 | OMIM:615938 | Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3 | | | | 11 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CCND2 CL E G H | 894 | 1583 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | | | | 11 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CD96 CL E G H | 10225 | 16892 | OMIM:211750 | C syndrome | | | | 83 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | | | | 83 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CDC45 CL E G H | 8318 | 1739 | OMIM:617063 | Meier-Gorlin syndrome 7 | | | | 9 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CEP104 CL E G H | 9731 | 24866 | ORPHA:475 | Joubert syndrome | | | | 5 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CEP120 CL E G H | 153241 | 26690 | ORPHA:474 | Jeune syndrome | | | | 7 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CEP120 CL E G H | 153241 | 26690 | ORPHA:475 | Joubert syndrome | | | | 7 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CEP120 CL E G H | 153241 | 26690 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 7 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CEP19 CL E G H | 84984 | 28209 | ORPHA:110 | Bardet-Biedl syndrome | | | | 1 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CEP290 CL E G H | 80184 | 29021 | ORPHA:110 | Bardet-Biedl syndrome | | | | 342 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CEP290 CL E G H | 80184 | 29021 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 342 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | | | | 342 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CEP290 CL E G H | 80184 | 29021 | OMIM:611134 | Meckel syndrome, type 4 | | | | 342 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CEP41 CL E G H | 95681 | 12370 | ORPHA:475 | Joubert syndrome | | | | 90 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CEP41 CL E G H | 95681 | 12370 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 90 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:110 | Bardet-Biedl syndrome | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CFAP418 CL E G H | 157657 | 27232 | OMIM:617406 | Bardet-Biedl syndrome 21 | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | | | | 35 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CIBAR1 CL E G H | 137392 | 30452 | OMIM:618219 | POLYDACTYLY, POSTAXIAL, TYPE A9; PAPA9 | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 6 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:475 | Joubert syndrome | | | | 57 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | | | | 57 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | | | | 2 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | DDX59 CL E G H | 83479 | 25360 | ORPHA:2919 | Orofaciodigital syndrome type 5 | | | | 2 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | DDX59 CL E G H | 83479 | 25360 | OMIM:174300 | Orofaciodigital syndrome V | | | | 2 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | | | | 33 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 14 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | DVL1 CL E G H | 1855 | 3084 | OMIM:616331 | Robinow syndrome, autosomal dominant 2 | | | | 14 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:474 | Jeune syndrome | | | | 304 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 304 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:474 | Jeune syndrome | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:474 | Jeune syndrome | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:289 | Ellis Van Creveld syndrome | | | | 7 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:474 | Jeune syndrome | | | | 7 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | DYNC2LI1 CL E G H | 51626 | 24595 | OMIM:617088 | Short-rib thoracic dysplasia 15 with polydactyly | | | | 7 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | DYNLT2B CL E G H | 255758 | 28482 | OMIM:617405 | Short-Rib thoracic dysplasia 17 with or without polydactyly | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | EBP CL E G H | 10682 | 3133 | ORPHA:401973 | MEND syndrome | | | | 51 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | EFNB1 CL E G H | 1947 | 3226 | ORPHA:1520 | Craniofrontonasal dysplasia | | | | 27 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | EFTUD2 CL E G H | 9343 | 30858 | OMIM:610536 | Mandibulofacial dysostosis, Guion-Almeida type | | | | 48 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | EFTUD2 CL E G H | 9343 | 30858 | ORPHA:79113 | Mandibulofacial dysostosis-microcephaly syndrome | | | | 48 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | | | | 92 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | EVC CL E G H | 2121 | 3497 | ORPHA:952 | Acrofacial dysostosis, Weyers type | | | | 209 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | EVC CL E G H | 2121 | 3497 | ORPHA:289 | Ellis Van Creveld syndrome | | | | 209 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | EVC CL E G H | 2121 | 3497 | OMIM:225500 | Ellis-Van creveld syndrome | | | | 209 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | EVC CL E G H | 2121 | 3497 | OMIM:193530 | Weyers acrofacial dysostosis | | | | 209 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | EVC2 CL E G H | 132884 | 19747 | ORPHA:952 | Acrofacial dysostosis, Weyers type | | | | 137 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | EVC2 CL E G H | 132884 | 19747 | ORPHA:289 | Ellis Van Creveld syndrome | | | | 137 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | EVC2 CL E G H | 132884 | 19747 | OMIM:225500 | Ellis-Van creveld syndrome | | | | 137 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | EVC2 CL E G H | 132884 | 19747 | OMIM:193530 | Weyers acrofacial dysostosis | | | | 137 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | FAM149B1 CL E G H | 317662 | 29162 | OMIM:618763 | JOUBERT SYNDROME 36; JBTS36 | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | FAM149B1 CL E G H | 317662 | 29162 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | FANCA CL E G H | 2175 | 3582 | OMIM:227650 | Fanconi anemia | | | | 340 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | FANCB CL E G H | 2187 | 3583 | OMIM:314390 | VACTERL association, X-linked | | | | 58 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | FANCC CL E G H | 2176 | 3584 | OMIM:227645 | Fanconi anemia, complementation group C | | | | 410 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | FANCE CL E G H | 2178 | 3586 | OMIM:600901 | Fanconi anemia, complementation group E | | | | 73 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | | | | 175 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | | | | 8 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | | | | | | |
HP:0009142 | HP:0004232 | Accessory carpal bones | 2 | FLNA CL E G H | 2316 | 3754 | OMIM:311300 | Otopalatodigital syndrome, type I | . | | | 493 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | FLNA CL E G H | 2316 | 3754 | OMIM:304120 | Otopalatodigital syndrome, type II | | | | 493 | | |
HP:0009142 | HP:0004232 | Accessory carpal bones | 2 | FLNB CL E G H | 2317 | 3755 | ORPHA:503 | Larsen syndrome | HP:0040282 - Frequent | | | 233 | | |
HP:0009142 | HP:0004232 | Accessory carpal bones | 2 | FLNB CL E G H | 2317 | 3755 | OMIM:150250 | Larsen syndrome | . | | | 233 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | | | | 29 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | GDF5 CL E G H | 8200 | 4220 | ORPHA:2098 | Acromesomelic dysplasia, Grebe type | | | | 52 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93384 | Brachydactyly type C | | | | 52 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | | | | 52 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | GDF5 CL E G H | 8200 | 4220 | OMIM:200700 | Chondrodysplasia, Grebe type | | | | 52 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | | | | 68 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | GLI1 CL E G H | 2735 | 4317 | ORPHA:289 | Ellis Van Creveld syndrome | | | | 1 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | GLI1 CL E G H | 2735 | 4317 | OMIM:174400 | Polydactyly, preaxial I | | | | 1 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | | | | 173 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | GLI3 CL E G H | 2737 | 4319 | ORPHA:36 | Acrocallosal syndrome | | | | 270 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | GLI3 CL E G H | 2737 | 4319 | OMIM:175700 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | GLI3 CL E G H | 2737 | 4319 | ORPHA:380 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | | | | 270 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | GLI3 CL E G H | 2737 | 4319 | OMIM:174200 | Polydactyly, postaxial, type A1 | | | | 270 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | GLI3 CL E G H | 2737 | 4319 | OMIM:174700 | Polydactyly, preaxial IV | | | | 270 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 8 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | 73 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | HEATR3 CL E G H | 55027 | 26087 | OMIM:620072 | | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 21 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 3 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | HOXA13 CL E G H | 3209 | 5102 | ORPHA:2438 | Hand-foot-genital syndrome | | | | 11 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | HOXA13 CL E G H | 3209 | 5102 | OMIM:176305 | Preaxial deficiency, postaxial polydactyly, and hypospadias | | | | 11 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186000 | Synpolydactyly 1 | | | | 25 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:887 | VACTERL/VATER association | | | | 25 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:2189 | Hydrolethalus | | | | 31 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | HYLS1 CL E G H | 219844 | 26558 | OMIM:236680 | Hydrolethalus syndrome 1 | | | | 31 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:475 | Joubert syndrome | | | | 31 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | IFT140 CL E G H | 9742 | 29077 | ORPHA:474 | Jeune syndrome | | | | 148 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | IFT172 CL E G H | 26160 | 30391 | ORPHA:110 | Bardet-Biedl syndrome | | | | 48 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | IFT172 CL E G H | 26160 | 30391 | OMIM:619471 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 48 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | IFT172 CL E G H | 26160 | 30391 | ORPHA:474 | Jeune syndrome | | | | 48 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | IFT172 CL E G H | 26160 | 30391 | OMIM:615630 | Short-Rib thoracic dysplasia 10 with or without polydactyly | | | | 48 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | IFT27 CL E G H | 11020 | 18626 | ORPHA:110 | Bardet-Biedl syndrome | | | | 1 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | IFT74 CL E G H | 80173 | 21424 | ORPHA:110 | Bardet-Biedl syndrome | | | | 3 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | IFT80 CL E G H | 57560 | 29262 | OMIM:611263 | Asphyxiating thoracic dystrophy 2 | | | | 65 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | IFT80 CL E G H | 57560 | 29262 | ORPHA:474 | Jeune syndrome | | | | 65 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | IFT80 CL E G H | 57560 | 29262 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 65 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | INPP5E CL E G H | 56623 | 21474 | ORPHA:475 | Joubert syndrome | | | | 111 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | | | | 111 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 111 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | INPP5E CL E G H | 56623 | 21474 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 111 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | INTU CL E G H | 27152 | 29239 | OMIM:617926 | OROFACIODIGITAL SYNDROME XVII; OFD17 | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | | | | 119 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 2 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | KATNIP CL E G H | 23247 | 29068 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:475 | Joubert syndrome | | | | 24 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | KIAA0753 CL E G H | 9851 | 29110 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 4 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | KIAA0825 CL E G H | 285600 | 28532 | OMIM:618498 | Polydactyly, postaxial, type A10 | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | KIF7 CL E G H | 374654 | 30497 | ORPHA:36 | Acrocallosal syndrome | | | | 167 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2189 | Hydrolethalus | | | | 167 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | KIF7 CL E G H | 374654 | 30497 | OMIM:614120 | Hydrolethalus syndrome 2 | | | | 167 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 167 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:1879 | Melorheostosis with osteopoikilosis | | | | 68 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 51 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 43 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | LMBR1 CL E G H | 64327 | 13243 | ORPHA:2378 | Laurin-Sandrow syndrome | | | | 106 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | LMBR1 CL E G H | 64327 | 13243 | OMIM:135750 | Laurin-Sandrow syndrome | | | | 106 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | LMBR1 CL E G H | 64327 | 13243 | OMIM:174500 | Polydactyly, preaxial II | | | | 106 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | LMBR1 CL E G H | 64327 | 13243 | ORPHA:93405 | Syndactyly type 4 | | | | 106 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | LZTFL1 CL E G H | 54585 | 6741 | ORPHA:110 | Bardet-Biedl syndrome | | | | 4 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | | | | 63 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | MAP3K20 CL E G H | 51776 | 17797 | OMIM:616890 | Split-Foot malformation with mesoaxial polydactyly | | | | 2 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:85284 | BRESEK syndrome | | | | 22 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | | | | 22 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | MEGF8 CL E G H | 1954 | 3233 | ORPHA:65759 | Carpenter syndrome | | | | 13 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | MKKS CL E G H | 8195 | 7108 | ORPHA:110 | Bardet-Biedl syndrome | | | | 69 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | MKKS CL E G H | 8195 | 7108 | ORPHA:2473 | McKusick-Kaufman syndrome | | | | 69 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | MKKS CL E G H | 8195 | 7108 | OMIM:236700 | Mckusick-Kaufman syndrome | | | | 69 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | MKS1 CL E G H | 54903 | 7121 | ORPHA:110 | Bardet-Biedl syndrome | | | | 127 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | MKS1 CL E G H | 54903 | 7121 | ORPHA:475 | Joubert syndrome | | | | 127 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | MKS1 CL E G H | 54903 | 7121 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 127 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | | | | 127 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | | | | 127 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | NAA10 CL E G H | 8260 | 18704 | ORPHA:568 | Microphthalmia, Lenz type | | | | 23 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | | | | 101 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | | | | 101 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:110 | Bardet-Biedl syndrome | | | | 85 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:220497 | Joubert syndrome with renal defect | | | | 85 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | NUP107 CL E G H | 57122 | 29914 | OMIM:618348 | Galloway-Mowat syndrome 7 | | | | 5 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | NUP107 CL E G H | 57122 | 29914 | OMIM:616730 | Nephrotic syndrome, type 11 | | | | 5 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | | | | 201 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 201 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | PAH CL E G H | 5053 | 8582 | ORPHA:2209 | Maternal phenylketonuria | | | | 641 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | PDE6D CL E G H | 5147 | 8788 | OMIM:615665 | Joubert syndrome 22 | | | | 1 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | PDE6D CL E G H | 5147 | 8788 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 1 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | PHF8 CL E G H | 23133 | 20672 | ORPHA:85287 | X-linked intellectual disability, Siderius type | | | | 23 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | PIBF1 CL E G H | 10464 | 23352 | ORPHA:475 | Joubert syndrome | | | | 4 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 7 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:60040 | Megalencephaly-capillary malformation-polymicrogyria syndrome | | | | 162 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | PIK3R2 CL E G H | 5296 | 8980 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | | | | 12 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | PLAA CL E G H | 9373 | 9043 | ORPHA:521426 | PLAA-associated neurodevelopmental disorder | | | | 3 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:2377 | Laurence-Moon syndrome | | | | 103 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | | | | 20 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | | | | 20 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 36 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | PRKACA CL E G H | 5566 | 9380 | ORPHA:289 | Ellis Van Creveld syndrome | | | | 2 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | PRKACB CL E G H | 5567 | 9381 | OMIM:619143 | CARDIOACROFACIAL DYSPLASIA 2; CAFD2 | | | | 2 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | PRKACB CL E G H | 5567 | 9381 | ORPHA:289 | Ellis Van Creveld syndrome | | | | 2 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 54 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | PTEN CL E G H | 5728 | 9588 | ORPHA:65285 | Lhermitte-Duclos disease | | | | 948 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | RAB23 CL E G H | 51715 | 14263 | ORPHA:65759 | Carpenter syndrome | | | | 31 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | | | | 150 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | | | | 16 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | | | | 120 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | | | | 109 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611560 | Joubert syndrome 7 | | | | 167 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 167 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:220497 | Joubert syndrome with renal defect | | | | 167 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | | | | 167 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611561 | Meckel syndrome, type 5 | | | | 167 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | | | | 11 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | | | | 40 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | | | | 26 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | | | | 5 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | | | | 42 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | | | | 42 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | | | | 20 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | | | | 20 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | | | | 124 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | | | | 124 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | | | | 86 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | | | | 86 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | SALL4 CL E G H | 57167 | 15924 | ORPHA:2307 | IVIC syndrome | | | | 86 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | | | | 80 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | SCAPER CL E G H | 49855 | 13081 | ORPHA:110 | Bardet-Biedl syndrome | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | SCNM1 CL E G H | 79005 | 23136 | OMIM:620107 | | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | SDCCAG8 CL E G H | 10806 | 10671 | ORPHA:110 | Bardet-Biedl syndrome | | | | 61 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | | | | 143 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | | | | 2 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261197 | Proximal 16p11.2 microdeletion syndrome | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | SHH CL E G H | 6469 | 10848 | ORPHA:93405 | Syndactyly type 4 | | | | 67 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | SHMT2 CL E G H | 6472 | 10852 | OMIM:619121 | NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | SMO CL E G H | 6608 | 11119 | OMIM:601707 | Curry-Jones syndrome | | | | 22 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | SMO CL E G H | 6608 | 11119 | ORPHA:1553 | Curry-Jones syndrome | | | | 22 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | SMO CL E G H | 6608 | 11119 | OMIM:241800 | Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included | | | | 22 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | SMOC1 CL E G H | 64093 | 20318 | OMIM:206920 | Microphthalmia with limb anomalies | | | | 15 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | | | | 15 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | SUFU CL E G H | 51684 | 16466 | ORPHA:475 | Joubert syndrome | | | | 124 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 32 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | | | | 100 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TBX3 CL E G H | 6926 | 11602 | ORPHA:3138 | Ulnar-mammary syndrome | | | | 100 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TBX5 CL E G H | 6910 | 11604 | OMIM:142900 | Holt-Oram syndrome | | | | 123 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:475 | Joubert syndrome | | | | 45 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | | | | 45 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:475 | Joubert syndrome | | | | 76 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TCTN2 CL E G H | 79867 | 25774 | OMIM:616654 | Joubert syndrome 24 | | | | 76 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | | | | 76 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | | | | 31 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TCTN3 CL E G H | 26123 | 24519 | OMIM:258860 | Orofaciodigital syndrome IV | | | | 31 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | | | | 31 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 31 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TFAP2A CL E G H | 7020 | 11742 | ORPHA:1297 | Branchio-oculo-facial syndrome | | | | 12 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | | | | 12 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TFAP2B CL E G H | 7021 | 11743 | ORPHA:46627 | Char syndrome | | | | 104 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TGFBR1 CL E G H | 7046 | 11772 | OMIM:609192 | Loeys-Dietz syndrome 1 | | | | 239 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | | | | 4 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TMEM107 CL E G H | 84314 | 28128 | OMIM:617563 | Orofaciodigital syndrome XVI | | | | 4 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TMEM138 CL E G H | 51524 | 26944 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 39 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | | | | 45 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 45 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | | | | 45 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TMEM216 CL E G H | 51259 | 25018 | OMIM:603194 | Meckel syndrome, type 2 | | | | 45 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 45 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TMEM218 CL E G H | 219854 | 27344 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 33 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | | | | 33 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2752 | Orofaciodigital syndrome type 3 | | | | 33 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:475 | Joubert syndrome | | | | 82 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 82 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:220497 | Joubert syndrome with renal defect | | | | 82 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | | | | 82 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TMEM67 CL E G H | 91147 | 28396 | OMIM:216360 | Coach syndrome 1 | | | | 166 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:475 | Joubert syndrome | | | | 166 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 166 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | | | | 166 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TMEM67 CL E G H | 91147 | 28396 | OMIM:607361 | Meckel syndrome 3 | | | | 166 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TOGARAM1 CL E G H | 23116 | 19959 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TOPORS CL E G H | 10210 | 21653 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 61 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TRIM32 CL E G H | 22954 | 16380 | ORPHA:110 | Bardet-Biedl syndrome | | | | 108 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TTC21B CL E G H | 79809 | 25660 | ORPHA:474 | Jeune syndrome | | | | 132 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TTC8 CL E G H | 123016 | 20087 | ORPHA:110 | Bardet-Biedl syndrome | | | | 41 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TXNDC15 CL E G H | 79770 | 20652 | OMIM:619879 | | | | | 2 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | | | | 2 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | UBE2T CL E G H | 29089 | 25009 | OMIM:616435 | Fanconi anemia, complementation group T | | | | 2 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | | | | 83 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | WDPCP CL E G H | 51057 | 28027 | ORPHA:110 | Bardet-Biedl syndrome | | | | 60 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | WDPCP CL E G H | 51057 | 28027 | OMIM:217085 | Congenital heart defects, hamartomas of tongue, and polysyndactyly | | | | 60 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | WDR19 CL E G H | 57728 | 18340 | ORPHA:474 | Jeune syndrome | | | | 95 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | | | | 136 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | WDR35 CL E G H | 57539 | 29250 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 136 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 98 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | WNT7A CL E G H | 7476 | 12786 | OMIM:228930 | Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly | | | | 13 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | ZIC3 CL E G H | 7547 | 12874 | OMIM:314390 | VACTERL association, X-linked | | | | 39 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | ZNF141 CL E G H | 7700 | 12926 | OMIM:615226 | Polydactyly, postaxial, type A6 | | | | 3 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | ZNF423 CL E G H | 23090 | 16762 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 49 | | |
HP:0009142 | HP:0009997 | Duplication of phalanx of hand | 2 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0009142 | HP:0004249 | Accessory lunate | 3 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0004244 | Accessory scaphoid | 3 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009985 | Duplication of phalanx of 5th finger | 3 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:457 | Harlequin ichthyosis | HP:0040283 - Occasional | | | 130 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | ACOX1 CL E G H | 51 | 119 | ORPHA:2971 | Peroxisomal acyl-CoA oxidase deficiency | HP:0040283 - Occasional | | | 120 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040283 - Occasional | | | 72 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040283 - Occasional | | | 123 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | AHI1 CL E G H | 54806 | 21575 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | AHI1 CL E G H | 54806 | 21575 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 175 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | AKT3 CL E G H | 10000 | 393 | OMIM:615937 | Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2 | | | | 19 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | AKT3 CL E G H | 10000 | 393 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | | | | 19 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | ALX3 CL E G H | 257 | 449 | OMIM:136760 | Frontonasal dysplasia 1 | | | | 9 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | ARL13B CL E G H | 200894 | 25419 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 62 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | ARL3 CL E G H | 403 | 694 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | ARL6 CL E G H | 84100 | 13210 | ORPHA:110 | Bardet-Biedl syndrome | | | | 29 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 29 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | ARMC9 CL E G H | 80210 | 20730 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | ARMC9 CL E G H | 80210 | 20730 | OMIM:617622 | JOUBERT SYNDROME 30; JBTS30 | | | | | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | B9D1 CL E G H | 27077 | 24123 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 28 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | | | | 28 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | B9D2 CL E G H | 80776 | 28636 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | | | | 34 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | B9D2 CL E G H | 80776 | 28636 | OMIM:614175 | Meckel syndrome, type 10 | | | | 34 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | BBIP1 CL E G H | 92482 | 28093 | ORPHA:110 | Bardet-Biedl syndrome | | | | 1 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | BBS1 CL E G H | 582 | 966 | ORPHA:110 | Bardet-Biedl syndrome | | | | 114 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 114 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | BBS10 CL E G H | 79738 | 26291 | ORPHA:110 | Bardet-Biedl syndrome | | | | 118 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | BBS12 CL E G H | 166379 | 26648 | ORPHA:110 | Bardet-Biedl syndrome | | | | 71 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | BBS2 CL E G H | 583 | 967 | ORPHA:110 | Bardet-Biedl syndrome | | | | 97 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | BBS2 CL E G H | 583 | 967 | OMIM:615981 | Bardet-Biedl syndrome 2 | | | | 97 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | BBS4 CL E G H | 585 | 969 | ORPHA:110 | Bardet-Biedl syndrome | | | | 87 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | BBS5 CL E G H | 129880 | 970 | ORPHA:110 | Bardet-Biedl syndrome | | | | 25 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | BBS7 CL E G H | 55212 | 18758 | ORPHA:110 | Bardet-Biedl syndrome | | | | 66 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | BBS9 CL E G H | 27241 | 30000 | ORPHA:110 | Bardet-Biedl syndrome | | | | 119 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | BBS9 CL E G H | 27241 | 30000 | OMIM:615986 | BARDET-BIEDL SYNDROME 9; BBS9 | | | | 119 | | |
HP:0009142 | HP:0009998 | Complete duplication of phalanx of hand | 3 | BCOR CL E G H | 54880 | 20893 | ORPHA:568 | Microphthalmia, Lenz type | | | | 101 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | BCOR CL E G H | 54880 | 20893 | ORPHA:568 | Microphthalmia, Lenz type | | | | 101 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | BHLHA9 CL E G H | 727857 | 35126 | ORPHA:3329 | Tibial aplasia-ectrodactyly syndrome | | | | 4 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | BLM CL E G H | 641 | 1058 | OMIM:210900 | Bloom syndrome | . | | | 314 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | BMPR1B CL E G H | 658 | 1077 | ORPHA:2098 | Acromesomelic dysplasia, Grebe type | | | | 90 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93384 | Brachydactyly type C | | | | 90 | | |
HP:0009142 | HP:0009998 | Complete duplication of phalanx of hand | 3 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93384 | Brachydactyly type C | | | | 90 | | |
HP:0009142 | HP:0009883 | Duplication of the distal phalanx of hand | 3 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93384 | Brachydactyly type C | | | | 90 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | | | | 27 | | |
HP:0009142 | HP:0009883 | Duplication of the distal phalanx of hand | 3 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CBY1 CL E G H | 25776 | 1307 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 247 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 247 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | | | | 247 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CC2D2A CL E G H | 57545 | 29253 | OMIM:612284 | Meckel syndrome, type 6 | HP:0040281 - Very frequent | HP:0003577 - Congenital onset | | 247 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 4 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CCND2 CL E G H | 894 | 1583 | OMIM:615938 | Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3 | | | | 11 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CCND2 CL E G H | 894 | 1583 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | | | | 11 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CD96 CL E G H | 10225 | 16892 | OMIM:211750 | C syndrome | | | | 83 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CDC45 CL E G H | 8318 | 1739 | OMIM:617063 | Meier-Gorlin syndrome 7 | | | | 9 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CEP104 CL E G H | 9731 | 24866 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CEP120 CL E G H | 153241 | 26690 | ORPHA:474 | Jeune syndrome | | | | 7 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CEP120 CL E G H | 153241 | 26690 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CEP120 CL E G H | 153241 | 26690 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 7 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CEP19 CL E G H | 84984 | 28209 | ORPHA:110 | Bardet-Biedl syndrome | | | | 1 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CEP290 CL E G H | 80184 | 29021 | ORPHA:110 | Bardet-Biedl syndrome | | | | 342 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CEP290 CL E G H | 80184 | 29021 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 342 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | | | | 342 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CEP290 CL E G H | 80184 | 29021 | OMIM:611134 | Meckel syndrome, type 4 | | | | 342 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CEP41 CL E G H | 95681 | 12370 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 90 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CEP41 CL E G H | 95681 | 12370 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 90 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:110 | Bardet-Biedl syndrome | | | | | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CFAP418 CL E G H | 157657 | 27232 | OMIM:617406 | Bardet-Biedl syndrome 21 | | | | | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | . | | | 515 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | | | | 35 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | HP:0040281 - Very frequent | | | 16 | | |
HP:0009142 | HP:0009998 | Complete duplication of phalanx of hand | 3 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0009142 | HP:0010006 | Duplication of the proximal phalanx of hand | 3 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0009142 | HP:0010008 | Duplication of the middle phalanx of hand | 3 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CIBAR1 CL E G H | 137392 | 30452 | OMIM:618219 | POLYDACTYLY, POSTAXIAL, TYPE A9; PAPA9 | | | | | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | | | | | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | | | | 57 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | | | | 2 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | | | | 2 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | | | | 2 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | DDX59 CL E G H | 83479 | 25360 | ORPHA:2919 | Orofaciodigital syndrome type 5 | | | | 2 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | DDX59 CL E G H | 83479 | 25360 | OMIM:174300 | Orofaciodigital syndrome V | | | | 2 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0009142 | HP:0009883 | Duplication of the distal phalanx of hand | 3 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | . | | | 14 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | DVL1 CL E G H | 1855 | 3084 | OMIM:616331 | Robinow syndrome, autosomal dominant 2 | | | | 14 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | DVL1 CL E G H | 1855 | 3084 | OMIM:616331 | Robinow syndrome, autosomal dominant 2 | | | | 14 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:474 | Jeune syndrome | | | | 304 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 304 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:474 | Jeune syndrome | | | | | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:474 | Jeune syndrome | | | | | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:474 | Jeune syndrome | | | | 7 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | DYNC2LI1 CL E G H | 51626 | 24595 | OMIM:617088 | Short-rib thoracic dysplasia 15 with polydactyly | | | | 7 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | DYNLT2B CL E G H | 255758 | 28482 | OMIM:617405 | Short-Rib thoracic dysplasia 17 with or without polydactyly | | | | | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | EBP CL E G H | 10682 | 3133 | ORPHA:401973 | MEND syndrome | HP:0040282 - Frequent | | | 51 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | EFNB1 CL E G H | 1947 | 3226 | ORPHA:1520 | Craniofrontonasal dysplasia | HP:0040282 - Frequent | | | 27 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | EFTUD2 CL E G H | 9343 | 30858 | OMIM:610536 | Mandibulofacial dysostosis, Guion-Almeida type | | | | 48 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | EFTUD2 CL E G H | 9343 | 30858 | ORPHA:79113 | Mandibulofacial dysostosis-microcephaly syndrome | | | | 48 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | | | | 92 | | |
HP:0009142 | HP:0009998 | Complete duplication of phalanx of hand | 3 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | | | | 92 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | EVC CL E G H | 2121 | 3497 | ORPHA:952 | Acrofacial dysostosis, Weyers type | | | | 209 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | EVC CL E G H | 2121 | 3497 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 209 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | EVC CL E G H | 2121 | 3497 | OMIM:225500 | Ellis-Van creveld syndrome | | | | 209 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | EVC CL E G H | 2121 | 3497 | OMIM:193530 | Weyers acrofacial dysostosis | | | | 209 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | EVC2 CL E G H | 132884 | 19747 | ORPHA:952 | Acrofacial dysostosis, Weyers type | | | | 137 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | EVC2 CL E G H | 132884 | 19747 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 137 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | EVC2 CL E G H | 132884 | 19747 | OMIM:225500 | Ellis-Van creveld syndrome | | | | 137 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | EVC2 CL E G H | 132884 | 19747 | OMIM:193530 | Weyers acrofacial dysostosis | | | | 137 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | FAM149B1 CL E G H | 317662 | 29162 | OMIM:618763 | JOUBERT SYNDROME 36; JBTS36 | | | | | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | FAM149B1 CL E G H | 317662 | 29162 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | FANCA CL E G H | 2175 | 3582 | OMIM:227650 | Fanconi anemia | | | | 340 | | |
HP:0009142 | HP:0009998 | Complete duplication of phalanx of hand | 3 | FANCA CL E G H | 2175 | 3582 | OMIM:227650 | Fanconi anemia | | | | 340 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | FANCB CL E G H | 2187 | 3583 | OMIM:314390 | VACTERL association, X-linked | . | | | 58 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | FANCC CL E G H | 2176 | 3584 | OMIM:227645 | Fanconi anemia, complementation group C | | | | 410 | | |
HP:0009142 | HP:0009998 | Complete duplication of phalanx of hand | 3 | FANCC CL E G H | 2176 | 3584 | OMIM:227645 | Fanconi anemia, complementation group C | | | | 410 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0009142 | HP:0009998 | Complete duplication of phalanx of hand | 3 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0009142 | HP:0009998 | Complete duplication of phalanx of hand | 3 | FANCE CL E G H | 2178 | 3586 | OMIM:600901 | Fanconi anemia, complementation group E | | | | 73 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | FANCE CL E G H | 2178 | 3586 | OMIM:600901 | Fanconi anemia, complementation group E | | | | 73 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | | | | 175 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0009142 | HP:0009883 | Duplication of the distal phalanx of hand | 3 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | HP:0040283 - Occasional | | | | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | FLNA CL E G H | 2316 | 3754 | OMIM:304120 | Otopalatodigital syndrome, type II | | | | 493 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | | | | 29 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | | | | 29 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | GDF5 CL E G H | 8200 | 4220 | ORPHA:2098 | Acromesomelic dysplasia, Grebe type | | | | 52 | | |
HP:0009142 | HP:0009883 | Duplication of the distal phalanx of hand | 3 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93384 | Brachydactyly type C | | | | 52 | | |
HP:0009142 | HP:0009998 | Complete duplication of phalanx of hand | 3 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93384 | Brachydactyly type C | | | | 52 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93384 | Brachydactyly type C | | | | 52 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | | | | 52 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | GDF5 CL E G H | 8200 | 4220 | OMIM:200700 | Chondrodysplasia, Grebe type | | | | 52 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040283 - Occasional | | | 68 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | GLI1 CL E G H | 2735 | 4317 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | GLI1 CL E G H | 2735 | 4317 | OMIM:174400 | Polydactyly, preaxial I | | | | 1 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | GLI1 CL E G H | 2735 | 4317 | OMIM:174400 | Polydactyly, preaxial I | | | | 1 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | GLI1 CL E G H | 2735 | 4317 | OMIM:174400 | Polydactyly, preaxial I | | | | 1 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | | | | 173 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | GLI3 CL E G H | 2737 | 4319 | ORPHA:36 | Acrocallosal syndrome | | | | 270 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | GLI3 CL E G H | 2737 | 4319 | ORPHA:380 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | GLI3 CL E G H | 2737 | 4319 | OMIM:175700 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | | | | 270 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | GLI3 CL E G H | 2737 | 4319 | OMIM:174200 | Polydactyly, postaxial, type A1 | | | | 270 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | GLI3 CL E G H | 2737 | 4319 | OMIM:174700 | Polydactyly, preaxial IV | . | | | 270 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | 73 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | HEATR3 CL E G H | 55027 | 26087 | OMIM:620072 | | | | | | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 21 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | HOXA13 CL E G H | 3209 | 5102 | ORPHA:2438 | Hand-foot-genital syndrome | | | | 11 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | HOXA13 CL E G H | 3209 | 5102 | OMIM:176305 | Preaxial deficiency, postaxial polydactyly, and hypospadias | | | | 11 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186000 | Synpolydactyly 1 | | | | 25 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:887 | VACTERL/VATER association | | | | 25 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:2189 | Hydrolethalus | | | | 31 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | HYLS1 CL E G H | 219844 | 26558 | OMIM:236680 | Hydrolethalus syndrome 1 | | | | 31 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | IFT140 CL E G H | 9742 | 29077 | ORPHA:474 | Jeune syndrome | | | | 148 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | IFT172 CL E G H | 26160 | 30391 | ORPHA:110 | Bardet-Biedl syndrome | | | | 48 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | IFT172 CL E G H | 26160 | 30391 | OMIM:619471 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 48 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | IFT172 CL E G H | 26160 | 30391 | ORPHA:474 | Jeune syndrome | | | | 48 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | IFT172 CL E G H | 26160 | 30391 | OMIM:615630 | Short-Rib thoracic dysplasia 10 with or without polydactyly | | | | 48 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | IFT27 CL E G H | 11020 | 18626 | ORPHA:110 | Bardet-Biedl syndrome | | | | 1 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | IFT74 CL E G H | 80173 | 21424 | ORPHA:110 | Bardet-Biedl syndrome | | | | 3 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | IFT80 CL E G H | 57560 | 29262 | OMIM:611263 | Asphyxiating thoracic dystrophy 2 | | | | 65 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | IFT80 CL E G H | 57560 | 29262 | ORPHA:474 | Jeune syndrome | | | | 65 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | IFT80 CL E G H | 57560 | 29262 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 65 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | INPP5E CL E G H | 56623 | 21474 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 111 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | | | | 111 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 111 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | INPP5E CL E G H | 56623 | 21474 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 111 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | INTU CL E G H | 27152 | 29239 | OMIM:617926 | OROFACIODIGITAL SYNDROME XVII; OFD17 | | | | | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | INTU CL E G H | 27152 | 29239 | OMIM:617926 | OROFACIODIGITAL SYNDROME XVII; OFD17 | | | | | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | HP:0040283 - Occasional | | | 119 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | KATNIP CL E G H | 23247 | 29068 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 24 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | KIAA0753 CL E G H | 9851 | 29110 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 4 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | KIAA0825 CL E G H | 285600 | 28532 | OMIM:618498 | Polydactyly, postaxial, type A10 | | | | | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0009142 | HP:0009883 | Duplication of the distal phalanx of hand | 3 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | KIF7 CL E G H | 374654 | 30497 | ORPHA:36 | Acrocallosal syndrome | | | | 167 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2189 | Hydrolethalus | | | | 167 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | KIF7 CL E G H | 374654 | 30497 | OMIM:614120 | Hydrolethalus syndrome 2 | | | | 167 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 167 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0009142 | HP:0009883 | Duplication of the distal phalanx of hand | 3 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:1879 | Melorheostosis with osteopoikilosis | | | | 68 | | |
HP:0009142 | HP:0009998 | Complete duplication of phalanx of hand | 3 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:1879 | Melorheostosis with osteopoikilosis | | | | 68 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 51 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 43 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | LMBR1 CL E G H | 64327 | 13243 | OMIM:135750 | Laurin-Sandrow syndrome | . | | | 106 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | LMBR1 CL E G H | 64327 | 13243 | ORPHA:2378 | Laurin-Sandrow syndrome | | | | 106 | | |
HP:0009142 | HP:0009883 | Duplication of the distal phalanx of hand | 3 | LMBR1 CL E G H | 64327 | 13243 | OMIM:174500 | Polydactyly, preaxial II | | | | 106 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | LMBR1 CL E G H | 64327 | 13243 | OMIM:174500 | Polydactyly, preaxial II | HP:0040281 - Very frequent | | | 106 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | LMBR1 CL E G H | 64327 | 13243 | OMIM:174500 | Polydactyly, preaxial II | | | | 106 | | |
HP:0009142 | HP:0009998 | Complete duplication of phalanx of hand | 3 | LMBR1 CL E G H | 64327 | 13243 | OMIM:174500 | Polydactyly, preaxial II | | | | 106 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | LMBR1 CL E G H | 64327 | 13243 | ORPHA:93405 | Syndactyly type 4 | HP:0040281 - Very frequent | | | 106 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | LZTFL1 CL E G H | 54585 | 6741 | ORPHA:110 | Bardet-Biedl syndrome | | | | 4 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | | | | 63 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | MAP3K20 CL E G H | 51776 | 17797 | OMIM:616890 | Split-Foot malformation with mesoaxial polydactyly | | | | 2 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:85284 | BRESEK syndrome | | | | 22 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | | | | 22 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | MEGF8 CL E G H | 1954 | 3233 | ORPHA:65759 | Carpenter syndrome | | | | 13 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | MKKS CL E G H | 8195 | 7108 | ORPHA:110 | Bardet-Biedl syndrome | | | | 69 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | MKKS CL E G H | 8195 | 7108 | OMIM:236700 | Mckusick-Kaufman syndrome | | | | 69 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | MKKS CL E G H | 8195 | 7108 | ORPHA:2473 | McKusick-Kaufman syndrome | | | | 69 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | MKS1 CL E G H | 54903 | 7121 | ORPHA:110 | Bardet-Biedl syndrome | | | | 127 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | MKS1 CL E G H | 54903 | 7121 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 127 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | MKS1 CL E G H | 54903 | 7121 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 127 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | | | | 127 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | | | | 127 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | NAA10 CL E G H | 8260 | 18704 | ORPHA:568 | Microphthalmia, Lenz type | | | | 23 | | |
HP:0009142 | HP:0009998 | Complete duplication of phalanx of hand | 3 | NAA10 CL E G H | 8260 | 18704 | ORPHA:568 | Microphthalmia, Lenz type | | | | 23 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | HP:0040283 - Occasional | | | 101 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | | | | 101 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:110 | Bardet-Biedl syndrome | | | | 85 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040283 - Occasional | | | 85 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | NUP107 CL E G H | 57122 | 29914 | OMIM:618348 | Galloway-Mowat syndrome 7 | | | | 5 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | NUP107 CL E G H | 57122 | 29914 | OMIM:618348 | Galloway-Mowat syndrome 7 | | | | 5 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | NUP107 CL E G H | 57122 | 29914 | OMIM:616730 | Nephrotic syndrome, type 11 | | | | 5 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | NUP107 CL E G H | 57122 | 29914 | OMIM:616730 | Nephrotic syndrome, type 11 | | | | 5 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | HP:0040282 - Frequent | | | 201 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 201 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | PAH CL E G H | 5053 | 8582 | ORPHA:2209 | Maternal phenylketonuria | | | | 641 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | PAH CL E G H | 5053 | 8582 | ORPHA:2209 | Maternal phenylketonuria | | | | 641 | | |
HP:0009142 | HP:0009883 | Duplication of the distal phalanx of hand | 3 | PAH CL E G H | 5053 | 8582 | ORPHA:2209 | Maternal phenylketonuria | | | | 641 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | PDE6D CL E G H | 5147 | 8788 | OMIM:615665 | Joubert syndrome 22 | | | | 1 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | PDE6D CL E G H | 5147 | 8788 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 1 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | PHF8 CL E G H | 23133 | 20672 | ORPHA:85287 | X-linked intellectual disability, Siderius type | | | | 23 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | PIBF1 CL E G H | 10464 | 23352 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 7 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:60040 | Megalencephaly-capillary malformation-polymicrogyria syndrome | HP:0040281 - Very frequent | | | 162 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | PIK3R2 CL E G H | 5296 | 8980 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | | | | 12 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | PLAA CL E G H | 9373 | 9043 | ORPHA:521426 | PLAA-associated neurodevelopmental disorder | | | | 3 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:2377 | Laurence-Moon syndrome | HP:0040281 - Very frequent | | | 103 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | HP:0040281 - Very frequent | | | 20 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | | | | 20 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 36 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | | | | | | |
HP:0009142 | HP:0009883 | Duplication of the distal phalanx of hand | 3 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | | | | | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | | | | | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | PRKACA CL E G H | 5566 | 9380 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | PRKACB CL E G H | 5567 | 9381 | OMIM:619143 | CARDIOACROFACIAL DYSPLASIA 2; CAFD2 | | | | 2 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | PRKACB CL E G H | 5567 | 9381 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 54 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | PTEN CL E G H | 5728 | 9588 | ORPHA:65285 | Lhermitte-Duclos disease | HP:0040281 - Very frequent | | | 948 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | | | | 19 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | RAB23 CL E G H | 51715 | 14263 | ORPHA:65759 | Carpenter syndrome | | | | 31 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0009142 | HP:0009998 | Complete duplication of phalanx of hand | 3 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0009142 | HP:0010008 | Duplication of the middle phalanx of hand | 3 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0009142 | HP:0010006 | Duplication of the proximal phalanx of hand | 3 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0009142 | HP:0009883 | Duplication of the distal phalanx of hand | 3 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | . | | | 120 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | | | | 109 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611560 | Joubert syndrome 7 | | | | 167 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 167 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040283 - Occasional | | | 167 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | | | | 167 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611561 | Meckel syndrome, type 5 | | | | 167 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | | | | 11 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | | | | 11 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | | | | 40 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | | | | 40 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | | | | 26 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | | | | 26 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | | | | 5 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | | | | 5 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | | | | 42 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | | | | 42 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | | | | 42 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | | | | 42 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | | | | 20 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | | | | 20 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | | | | 20 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | | | | 20 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | | | | 124 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | | | | 124 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | | | | 124 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | | | | 124 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | | | | 124 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | | | | 124 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | | | | 86 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | | | | 86 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | SALL4 CL E G H | 57167 | 15924 | ORPHA:2307 | IVIC syndrome | | | | 86 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | | | | 80 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | SCAPER CL E G H | 49855 | 13081 | ORPHA:110 | Bardet-Biedl syndrome | | | | | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | SCNM1 CL E G H | 79005 | 23136 | OMIM:620107 | | | | | | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | SDCCAG8 CL E G H | 10806 | 10671 | ORPHA:110 | Bardet-Biedl syndrome | | | | 61 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | | | | 143 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | | | | 2 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | | | | 2 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261197 | Proximal 16p11.2 microdeletion syndrome | HP:0040284 - Very rare | | | | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | SHH CL E G H | 6469 | 10848 | ORPHA:93405 | Syndactyly type 4 | HP:0040281 - Very frequent | | | 67 | | |
HP:0009142 | HP:0009998 | Complete duplication of phalanx of hand | 3 | SHMT2 CL E G H | 6472 | 10852 | OMIM:619121 | NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB | | | | | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | SHMT2 CL E G H | 6472 | 10852 | OMIM:619121 | NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB | | | | | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | SMO CL E G H | 6608 | 11119 | OMIM:601707 | Curry-Jones syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | SMO CL E G H | 6608 | 11119 | ORPHA:1553 | Curry-Jones syndrome | | | | 22 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | SMO CL E G H | 6608 | 11119 | OMIM:601707 | Curry-Jones syndrome | | | | 22 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | SMO CL E G H | 6608 | 11119 | OMIM:241800 | Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included | | | | 22 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | SMOC1 CL E G H | 64093 | 20318 | OMIM:206920 | Microphthalmia with limb anomalies | | | | 15 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | | | | 15 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | SUFU CL E G H | 51684 | 16466 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 124 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | | | | 100 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TBX3 CL E G H | 6926 | 11602 | ORPHA:3138 | Ulnar-mammary syndrome | | | | 100 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | TBX5 CL E G H | 6910 | 11604 | OMIM:142900 | Holt-Oram syndrome | | | | 123 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | TBX5 CL E G H | 6910 | 11604 | OMIM:142900 | Holt-Oram syndrome | | | | 123 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 45 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | | | | 45 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 76 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TCTN2 CL E G H | 79867 | 25774 | OMIM:616654 | Joubert syndrome 24 | | | | 76 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | | | | 76 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | | | | 31 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TCTN3 CL E G H | 26123 | 24519 | OMIM:258860 | Orofaciodigital syndrome IV | . | | | 31 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | | | | 31 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 31 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TFAP2A CL E G H | 7020 | 11742 | ORPHA:1297 | Branchio-oculo-facial syndrome | | | | 12 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | | | | 12 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TFAP2B CL E G H | 7021 | 11743 | ORPHA:46627 | Char syndrome | HP:0040283 - Occasional | | | 104 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TGFBR1 CL E G H | 7046 | 11772 | OMIM:609192 | Loeys-Dietz syndrome 1 | | | | 239 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | | | | 4 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TMEM107 CL E G H | 84314 | 28128 | OMIM:617563 | Orofaciodigital syndrome XVI | | | | 4 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TMEM138 CL E G H | 51524 | 26944 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 39 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | | | | 45 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 45 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | | | | 45 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TMEM216 CL E G H | 51259 | 25018 | OMIM:603194 | Meckel syndrome, type 2 | | | | 45 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 45 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TMEM218 CL E G H | 219854 | 27344 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 33 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | | | | 33 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2752 | Orofaciodigital syndrome type 3 | | | | 33 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 82 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 82 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040283 - Occasional | | | 82 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | | | | 82 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TMEM67 CL E G H | 91147 | 28396 | OMIM:216360 | Coach syndrome 1 | | | | 166 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 166 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 166 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | | | | 166 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TMEM67 CL E G H | 91147 | 28396 | OMIM:607361 | Meckel syndrome 3 | | | | 166 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TOGARAM1 CL E G H | 23116 | 19959 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TOPORS CL E G H | 10210 | 21653 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 61 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TRIM32 CL E G H | 22954 | 16380 | ORPHA:110 | Bardet-Biedl syndrome | | | | 108 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TTC21B CL E G H | 79809 | 25660 | ORPHA:474 | Jeune syndrome | | | | 132 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TTC8 CL E G H | 123016 | 20087 | ORPHA:110 | Bardet-Biedl syndrome | | | | 41 | | |
HP:0009142 | HP:0009883 | Duplication of the distal phalanx of hand | 3 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0009142 | HP:0009999 | Partial duplication of the phalanx of hand | 3 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TXNDC15 CL E G H | 79770 | 20652 | OMIM:619879 | | | | | 2 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | | | | 2 | | |
HP:0009142 | HP:0009942 | Duplication of thumb phalanx | 3 | UBE2T CL E G H | 29089 | 25009 | OMIM:616435 | Fanconi anemia, complementation group T | . | | | 2 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | WDPCP CL E G H | 51057 | 28027 | ORPHA:110 | Bardet-Biedl syndrome | | | | 60 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | WDPCP CL E G H | 51057 | 28027 | OMIM:217085 | Congenital heart defects, hamartomas of tongue, and polysyndactyly | | | | 60 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | WDR19 CL E G H | 57728 | 18340 | ORPHA:474 | Jeune syndrome | | | | 95 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | | | | 136 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | WDR35 CL E G H | 57539 | 29250 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 136 | | |
HP:0009142 | HP:0009883 | Duplication of the distal phalanx of hand | 3 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | . | | | 98 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | WNT7A CL E G H | 7476 | 12786 | OMIM:228930 | Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly | | | | 13 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | ZIC3 CL E G H | 7547 | 12874 | OMIM:314390 | VACTERL association, X-linked | . | | | 39 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | ZNF141 CL E G H | 7700 | 12926 | OMIM:615226 | Polydactyly, postaxial, type A6 | | | | 3 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | ZNF423 CL E G H | 23090 | 16762 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 49 | | |
HP:0009142 | HP:0001161 | Hand polydactyly | 3 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0009142 | HP:0009989 | Duplication of the middle phalanx of the 5th finger | 4 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009973 | Complete duplication of the phalanges of the 4th finger | 4 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009976 | Duplication of the middle phalanx of the 4th finger | 4 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009988 | Duplication of the distal phalanx of the 5th finger | 4 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009987 | Partial duplication of the phalanges of the 5th finger | 4 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009949 | Duplication of the middle phalanx of the 2nd finger | 4 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0010690 | Mirror image hand polydactyly | 4 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009975 | Duplication of the distal phalanx of the 4th finger | 4 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009986 | Complete duplication of the phalanges of the 5th finger | 4 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009957 | Complete duplication of the phalanges of the 2nd finger | 4 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0010005 | Partial duplication of the middle phalanges of the hand | 4 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009947 | Duplication of the proximal phalanx of the 2nd finger | 4 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0010000 | Complete duplication of the proximal phalanges of the hand | 4 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009974 | Partial duplication of the phalanges of the 4th finger | 4 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009977 | Duplication of the proximal phalanx of the 4th finger | 4 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009990 | Duplication of the proximal phalanx of the 5th finger | 4 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 22 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | AKT3 CL E G H | 10000 | 393 | OMIM:615937 | Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2 | . | | | 19 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | AKT3 CL E G H | 10000 | 393 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | HP:0040281 - Very frequent | | | 19 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | ALX3 CL E G H | 257 | 449 | OMIM:136760 | Frontonasal dysplasia 1 | . | | | 9 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | ARL6 CL E G H | 84100 | 13210 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 29 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 29 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | ARMC9 CL E G H | 80210 | 20730 | OMIM:617622 | JOUBERT SYNDROME 30; JBTS30 | | | | | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 28 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 28 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | B9D2 CL E G H | 80776 | 28636 | OMIM:614175 | Meckel syndrome, type 10 | | | | 34 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | BBIP1 CL E G H | 92482 | 28093 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | BBS1 CL E G H | 582 | 966 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 114 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 114 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | BBS10 CL E G H | 79738 | 26291 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 118 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | BBS12 CL E G H | 166379 | 26648 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 71 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | BBS2 CL E G H | 583 | 967 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 97 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | BBS2 CL E G H | 583 | 967 | OMIM:615981 | Bardet-Biedl syndrome 2 | | | | 97 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | BBS4 CL E G H | 585 | 969 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 87 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | BBS5 CL E G H | 129880 | 970 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 25 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | BBS7 CL E G H | 55212 | 18758 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 66 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | BBS9 CL E G H | 27241 | 30000 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 119 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | BBS9 CL E G H | 27241 | 30000 | OMIM:615986 | BARDET-BIEDL SYNDROME 9; BBS9 | | | | 119 | | |
HP:0009142 | HP:0009943 | Complete duplication of thumb phalanx | 4 | BCOR CL E G H | 54880 | 20893 | ORPHA:568 | Microphthalmia, Lenz type | HP:0040282 - Frequent | | | 101 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | BHLHA9 CL E G H | 727857 | 35126 | ORPHA:3329 | Tibial aplasia-ectrodactyly syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | BHLHA9 CL E G H | 727857 | 35126 | ORPHA:3329 | Tibial aplasia-ectrodactyly syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | BMPR1B CL E G H | 658 | 1077 | ORPHA:2098 | Acromesomelic dysplasia, Grebe type | HP:0040282 - Frequent | | | 90 | | |
HP:0009142 | HP:0010001 | Complete duplication of the distal phalanges of the hand | 4 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93384 | Brachydactyly type C | | | | 90 | | |
HP:0009142 | HP:0009612 | Duplication of the distal phalanx of the thumb | 4 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93384 | Brachydactyly type C | | | | 90 | | |
HP:0009142 | HP:0009943 | Complete duplication of thumb phalanx | 4 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93384 | Brachydactyly type C | | | | 90 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | HP:0040282 - Frequent | | | 27 | | |
HP:0009142 | HP:0009612 | Duplication of the distal phalanx of the thumb | 4 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0009142 | HP:0010004 | Partial duplication of the distal phalanges of the hand | 4 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 247 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 247 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 247 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | CC2D2A CL E G H | 57545 | 29253 | OMIM:612284 | Meckel syndrome, type 6 | . | | | 247 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 4 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | CCND2 CL E G H | 894 | 1583 | OMIM:615938 | Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3 | . | | | 11 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | CCND2 CL E G H | 894 | 1583 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | CD96 CL E G H | 10225 | 16892 | OMIM:211750 | C syndrome | . | | | 83 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | CDC45 CL E G H | 8318 | 1739 | OMIM:617063 | Meier-Gorlin syndrome 7 | | | | 9 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | CEP120 CL E G H | 153241 | 26690 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | CEP19 CL E G H | 84984 | 28209 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | CEP290 CL E G H | 80184 | 29021 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 342 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 342 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 342 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | CEP290 CL E G H | 80184 | 29021 | OMIM:611134 | Meckel syndrome, type 4 | . | | | 342 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | CFAP418 CL E G H | 157657 | 27232 | OMIM:617406 | Bardet-Biedl syndrome 21 | | | | | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0009142 | HP:0009960 | Complete duplication of the phalanges of the 3rd finger | 4 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0009142 | HP:0009963 | Duplication of the middle phalanx of the 3rd finger | 4 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0009142 | HP:0010003 | Partial duplication of the proximal phalanges of the hand | 4 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0009142 | HP:0009961 | Partial duplication of the phalanges of the 3rd finger | 4 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0009142 | HP:0009943 | Complete duplication of thumb phalanx | 4 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0009142 | HP:0010002 | Complete duplication of the middle phalanges of the hand | 4 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0009142 | HP:0009613 | Duplication of the proximal phalanx of the thumb | 4 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0009142 | HP:0006159 | Mesoaxial hand polydactyly | 4 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0009142 | HP:0009964 | Duplication of the proximal phalanx of the 3rd finger | 4 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | CIBAR1 CL E G H | 137392 | 30452 | OMIM:618219 | POLYDACTYLY, POSTAXIAL, TYPE A9; PAPA9 | | | | | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | | | | | | |
HP:0009142 | HP:0006159 | Mesoaxial hand polydactyly | 4 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | . | | | | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | . | | | | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 57 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0009142 | HP:0010441 | Ectopic accessory finger-like appendage | 4 | DDX59 CL E G H | 83479 | 25360 | ORPHA:2919 | Orofaciodigital syndrome type 5 | HP:0040283 - Occasional | | | 2 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | DDX59 CL E G H | 83479 | 25360 | ORPHA:2919 | Orofaciodigital syndrome type 5 | HP:0040281 - Very frequent | | | 2 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | DDX59 CL E G H | 83479 | 25360 | OMIM:174300 | Orofaciodigital syndrome V | . | | | 2 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040282 - Frequent | | | 159 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | DVL1 CL E G H | 1855 | 3084 | OMIM:616331 | Robinow syndrome, autosomal dominant 2 | | | | 14 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 304 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | 304 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | 304 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | DYNC2LI1 CL E G H | 51626 | 24595 | OMIM:617088 | Short-rib thoracic dysplasia 15 with polydactyly | | | | 7 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | DYNLT2B CL E G H | 255758 | 28482 | OMIM:617405 | Short-Rib thoracic dysplasia 17 with or without polydactyly | | | | | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | EFTUD2 CL E G H | 9343 | 30858 | OMIM:610536 | Mandibulofacial dysostosis, Guion-Almeida type | . | | | 48 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | EFTUD2 CL E G H | 9343 | 30858 | ORPHA:79113 | Mandibulofacial dysostosis-microcephaly syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0009142 | HP:0009943 | Complete duplication of thumb phalanx | 4 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | HP:0040281 - Very frequent | | | 92 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | EVC CL E G H | 2121 | 3497 | ORPHA:952 | Acrofacial dysostosis, Weyers type | HP:0040281 - Very frequent | | | 209 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | EVC CL E G H | 2121 | 3497 | OMIM:225500 | Ellis-Van creveld syndrome | . | | | 209 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | EVC CL E G H | 2121 | 3497 | OMIM:193530 | Weyers acrofacial dysostosis | . | | | 209 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | EVC2 CL E G H | 132884 | 19747 | ORPHA:952 | Acrofacial dysostosis, Weyers type | HP:0040281 - Very frequent | | | 137 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | EVC2 CL E G H | 132884 | 19747 | OMIM:225500 | Ellis-Van creveld syndrome | . | | | 137 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | EVC2 CL E G H | 132884 | 19747 | OMIM:193530 | Weyers acrofacial dysostosis | . | | | 137 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0009142 | HP:0006159 | Mesoaxial hand polydactyly | 4 | FAM149B1 CL E G H | 317662 | 29162 | OMIM:618763 | JOUBERT SYNDROME 36; JBTS36 | | | | | | |
HP:0009142 | HP:0009943 | Complete duplication of thumb phalanx | 4 | FANCA CL E G H | 2175 | 3582 | OMIM:227650 | Fanconi anemia | . | | | 340 | | |
HP:0009142 | HP:0009943 | Complete duplication of thumb phalanx | 4 | FANCC CL E G H | 2176 | 3584 | OMIM:227645 | Fanconi anemia, complementation group C | . | | | 410 | | |
HP:0009142 | HP:0009943 | Complete duplication of thumb phalanx | 4 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | . | | | 147 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0009142 | HP:0009943 | Complete duplication of thumb phalanx | 4 | FANCE CL E G H | 2178 | 3586 | OMIM:600901 | Fanconi anemia, complementation group E | . | | | 73 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 17 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 175 | | |
HP:0009142 | HP:0009961 | Partial duplication of the phalanges of the 3rd finger | 4 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0009142 | HP:0010004 | Partial duplication of the distal phalanges of the hand | 4 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0009142 | HP:0009956 | Partial duplication of the phalanges of the 2nd finger | 4 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0009142 | HP:0009962 | Duplication of the distal phalanx of the 3rd finger | 4 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0009142 | HP:0006159 | Mesoaxial hand polydactyly | 4 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0009142 | HP:0009948 | Duplication of the distal phalanx of the 2nd finger | 4 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 145 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | FLNA CL E G H | 2316 | 3754 | OMIM:304120 | Otopalatodigital syndrome, type II | . | | | 493 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 29 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | GDF5 CL E G H | 8200 | 4220 | ORPHA:2098 | Acromesomelic dysplasia, Grebe type | HP:0040282 - Frequent | | | 52 | | |
HP:0009142 | HP:0009943 | Complete duplication of thumb phalanx | 4 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93384 | Brachydactyly type C | | | | 52 | | |
HP:0009142 | HP:0010001 | Complete duplication of the distal phalanges of the hand | 4 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93384 | Brachydactyly type C | | | | 52 | | |
HP:0009142 | HP:0009612 | Duplication of the distal phalanx of the thumb | 4 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93384 | Brachydactyly type C | | | | 52 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | | | | 52 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | GDF5 CL E G H | 8200 | 4220 | OMIM:200700 | Chondrodysplasia, Grebe type | . | | | 52 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040283 - Occasional | | | 68 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | GLI1 CL E G H | 2735 | 4317 | OMIM:174400 | Polydactyly, preaxial I | . | | | 1 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | GLI1 CL E G H | 2735 | 4317 | OMIM:174400 | Polydactyly, preaxial I | . | | | 1 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | | | | 173 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | GLI3 CL E G H | 2737 | 4319 | ORPHA:36 | Acrocallosal syndrome | HP:0040281 - Very frequent | | | 270 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | GLI3 CL E G H | 2737 | 4319 | ORPHA:380 | Greig cephalopolysyndactyly syndrome | HP:0040281 - Very frequent | | | 270 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | GLI3 CL E G H | 2737 | 4319 | OMIM:175700 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | GLI3 CL E G H | 2737 | 4319 | OMIM:175700 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | GLI3 CL E G H | 2737 | 4319 | ORPHA:380 | Greig cephalopolysyndactyly syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040282 - Frequent | | | 270 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0009142 | HP:0006159 | Mesoaxial hand polydactyly | 4 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | | | | 270 | | |
HP:0009142 | HP:0006159 | Mesoaxial hand polydactyly | 4 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | GLI3 CL E G H | 2737 | 4319 | OMIM:174200 | Polydactyly, postaxial, type A1 | . | | | 270 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040281 - Very frequent | | | 73 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | . | | | 73 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040281 - Very frequent | | | | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | . | | | | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | HEATR3 CL E G H | 55027 | 26087 | OMIM:620072 | | | | | | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | HOXA13 CL E G H | 3209 | 5102 | ORPHA:2438 | Hand-foot-genital syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | HOXA13 CL E G H | 3209 | 5102 | OMIM:176305 | Preaxial deficiency, postaxial polydactyly, and hypospadias | . | | | 11 | | |
HP:0009142 | HP:0006159 | Mesoaxial hand polydactyly | 4 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186000 | Synpolydactyly 1 | . | | | 25 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:887 | VACTERL/VATER association | HP:0040283 - Occasional | | | 25 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:2189 | Hydrolethalus | HP:0040281 - Very frequent | | | 31 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | HYLS1 CL E G H | 219844 | 26558 | OMIM:236680 | Hydrolethalus syndrome 1 | | | | 31 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | HYLS1 CL E G H | 219844 | 26558 | OMIM:236680 | Hydrolethalus syndrome 1 | | | | 31 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | IFT140 CL E G H | 9742 | 29077 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 148 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | IFT172 CL E G H | 26160 | 30391 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 48 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | IFT172 CL E G H | 26160 | 30391 | OMIM:619471 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 48 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | IFT172 CL E G H | 26160 | 30391 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 48 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | IFT172 CL E G H | 26160 | 30391 | OMIM:615630 | Short-Rib thoracic dysplasia 10 with or without polydactyly | HP:0040283 - Occasional | | | 48 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | IFT27 CL E G H | 11020 | 18626 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | IFT74 CL E G H | 80173 | 21424 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | IFT80 CL E G H | 57560 | 29262 | OMIM:611263 | Asphyxiating thoracic dystrophy 2 | . | | | 65 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | IFT80 CL E G H | 57560 | 29262 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | IFT80 CL E G H | 57560 | 29262 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | 65 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | IFT80 CL E G H | 57560 | 29262 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | 65 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | . | | | 111 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 111 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | INTU CL E G H | 27152 | 29239 | OMIM:617926 | OROFACIODIGITAL SYNDROME XVII; OFD17 | | | | | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | KIAA0825 CL E G H | 285600 | 28532 | OMIM:618498 | Polydactyly, postaxial, type A10 | | | | | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | KIF7 CL E G H | 374654 | 30497 | ORPHA:36 | Acrocallosal syndrome | HP:0040281 - Very frequent | | | 167 | | |
HP:0009142 | HP:0009612 | Duplication of the distal phalanx of the thumb | 4 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0009142 | HP:0010004 | Partial duplication of the distal phalanges of the hand | 4 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2189 | Hydrolethalus | HP:0040281 - Very frequent | | | 167 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | KIF7 CL E G H | 374654 | 30497 | OMIM:614120 | Hydrolethalus syndrome 2 | | | | 167 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0009142 | HP:0010001 | Complete duplication of the distal phalanges of the hand | 4 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:1879 | Melorheostosis with osteopoikilosis | HP:0040281 - Very frequent | | | 68 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | LMBR1 CL E G H | 64327 | 13243 | ORPHA:2378 | Laurin-Sandrow syndrome | HP:0040281 - Very frequent | | | 106 | | |
HP:0009142 | HP:0010001 | Complete duplication of the distal phalanges of the hand | 4 | LMBR1 CL E G H | 64327 | 13243 | OMIM:174500 | Polydactyly, preaxial II | | | | 106 | | |
HP:0009142 | HP:0009612 | Duplication of the distal phalanx of the thumb | 4 | LMBR1 CL E G H | 64327 | 13243 | OMIM:174500 | Polydactyly, preaxial II | | | | 106 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | LMBR1 CL E G H | 64327 | 13243 | OMIM:174500 | Polydactyly, preaxial II | | | | 106 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | LMBR1 CL E G H | 64327 | 13243 | OMIM:174500 | Polydactyly, preaxial II | | | | 106 | | |
HP:0009142 | HP:0009943 | Complete duplication of thumb phalanx | 4 | LMBR1 CL E G H | 64327 | 13243 | OMIM:174500 | Polydactyly, preaxial II | | | | 106 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | LZTFL1 CL E G H | 54585 | 6741 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0009142 | HP:0006159 | Mesoaxial hand polydactyly | 4 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0009142 | HP:0006159 | Mesoaxial hand polydactyly | 4 | MAP3K20 CL E G H | 51776 | 17797 | OMIM:616890 | Split-Foot malformation with mesoaxial polydactyly | | | | 2 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:85284 | BRESEK syndrome | HP:0040282 - Frequent | | | 22 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | MEGF8 CL E G H | 1954 | 3233 | ORPHA:65759 | Carpenter syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | MKKS CL E G H | 8195 | 7108 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 69 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | MKKS CL E G H | 8195 | 7108 | OMIM:236700 | Mckusick-Kaufman syndrome | . | | | 69 | | |
HP:0009142 | HP:0006159 | Mesoaxial hand polydactyly | 4 | MKKS CL E G H | 8195 | 7108 | OMIM:236700 | Mckusick-Kaufman syndrome | . | | | 69 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | MKKS CL E G H | 8195 | 7108 | ORPHA:2473 | McKusick-Kaufman syndrome | HP:0040282 - Frequent | | | 69 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | MKS1 CL E G H | 54903 | 7121 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 127 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 127 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 127 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | | | | 127 | | |
HP:0009142 | HP:0009943 | Complete duplication of thumb phalanx | 4 | NAA10 CL E G H | 8260 | 18704 | ORPHA:568 | Microphthalmia, Lenz type | HP:0040282 - Frequent | | | 23 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | HP:0040283 - Occasional | | | 101 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | . | | | 101 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | . | | | 101 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 85 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 118 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | NUP107 CL E G H | 57122 | 29914 | OMIM:618348 | Galloway-Mowat syndrome 7 | | | | 5 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | NUP107 CL E G H | 57122 | 29914 | OMIM:616730 | Nephrotic syndrome, type 11 | . | | | 5 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | HP:0040283 - Occasional | | | 201 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | HP:0040283 - Occasional | | | 201 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | PAH CL E G H | 5053 | 8582 | ORPHA:2209 | Maternal phenylketonuria | | | | 641 | | |
HP:0009142 | HP:0009612 | Duplication of the distal phalanx of the thumb | 4 | PAH CL E G H | 5053 | 8582 | ORPHA:2209 | Maternal phenylketonuria | | | | 641 | | |
HP:0009142 | HP:0010004 | Partial duplication of the distal phalanges of the hand | 4 | PAH CL E G H | 5053 | 8582 | ORPHA:2209 | Maternal phenylketonuria | | | | 641 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | PDE6D CL E G H | 5147 | 8788 | OMIM:615665 | Joubert syndrome 22 | | | | 1 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | PHF8 CL E G H | 23133 | 20672 | ORPHA:85287 | X-linked intellectual disability, Siderius type | HP:0040283 - Occasional | | | 23 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | PIK3R2 CL E G H | 5296 | 8980 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | HP:0040281 - Very frequent | | | 12 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | PLAA CL E G H | 9373 | 9043 | ORPHA:521426 | PLAA-associated neurodevelopmental disorder | HP:0040282 - Frequent | | | 3 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | | | | | | |
HP:0009142 | HP:0009612 | Duplication of the distal phalanx of the thumb | 4 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | | | | | | |
HP:0009142 | HP:0010004 | Partial duplication of the distal phalanges of the hand | 4 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | | | | | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | PRKACB CL E G H | 5567 | 9381 | OMIM:619143 | CARDIOACROFACIAL DYSPLASIA 2; CAFD2 | | | | 2 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | RAB23 CL E G H | 51715 | 14263 | ORPHA:65759 | Carpenter syndrome | HP:0040282 - Frequent | | | 31 | | |
HP:0009142 | HP:0009943 | Complete duplication of thumb phalanx | 4 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0009142 | HP:0010002 | Complete duplication of the middle phalanges of the hand | 4 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0009142 | HP:0009613 | Duplication of the proximal phalanx of the thumb | 4 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0009142 | HP:0010003 | Partial duplication of the proximal phalanges of the hand | 4 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0009142 | HP:0009609 | Duplication of the 1st metacarpal | 4 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 109 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 109 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611560 | Joubert syndrome 7 | . | | | 167 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 167 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 167 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 167 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611561 | Meckel syndrome, type 5 | . | | | 167 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 22 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 3 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 3 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 11 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 40 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 26 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 5 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 42 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | . | | | 42 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 22 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 20 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 3 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 20 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | HP:0040283 - Occasional | | | 124 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | HP:0040281 - Very frequent | | | 124 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | . | | | 124 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | . | | | 124 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | HP:0040282 - Frequent | | | 86 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | SALL4 CL E G H | 57167 | 15924 | ORPHA:2307 | IVIC syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | HP:0040282 - Frequent | | | 80 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | SCAPER CL E G H | 49855 | 13081 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | SCNM1 CL E G H | 79005 | 23136 | OMIM:620107 | | | | | | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | SDCCAG8 CL E G H | 10806 | 10671 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | . | | | 143 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | | | | 2 | | |
HP:0009142 | HP:0009943 | Complete duplication of thumb phalanx | 4 | SHMT2 CL E G H | 6472 | 10852 | OMIM:619121 | NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB | | | | | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | SMO CL E G H | 6608 | 11119 | ORPHA:1553 | Curry-Jones syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | SMO CL E G H | 6608 | 11119 | OMIM:601707 | Curry-Jones syndrome | . | | | 22 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | SMO CL E G H | 6608 | 11119 | OMIM:241800 | Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included | . | | | 22 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | HP:0040282 - Frequent | | | 15 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | SMOC1 CL E G H | 64093 | 20318 | OMIM:206920 | Microphthalmia with limb anomalies | . | | | 15 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | TBX3 CL E G H | 6926 | 11602 | ORPHA:3138 | Ulnar-mammary syndrome | HP:0040283 - Occasional | | | 100 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | . | | | 100 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | TBX5 CL E G H | 6910 | 11604 | OMIM:142900 | Holt-Oram syndrome | . | | | 123 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 45 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 45 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | TCTN2 CL E G H | 79867 | 25774 | OMIM:616654 | Joubert syndrome 24 | . | | | 76 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 76 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 76 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 31 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | HP:0040281 - Very frequent | | | 31 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | HP:0040281 - Very frequent | | | 31 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | TFAP2A CL E G H | 7020 | 11742 | ORPHA:1297 | Branchio-oculo-facial syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | . | | | 12 | | |
HP:0009142 | HP:0006159 | Mesoaxial hand polydactyly | 4 | TFAP2B CL E G H | 7021 | 11743 | ORPHA:46627 | Char syndrome | HP:0040282 - Frequent | | | 104 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | TGFBR1 CL E G H | 7046 | 11772 | OMIM:609192 | Loeys-Dietz syndrome 1 | | | | 239 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | . | | | 6 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | TMEM107 CL E G H | 84314 | 28128 | OMIM:617563 | Orofaciodigital syndrome XVI | . | | | 4 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | . | | | 45 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 45 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 45 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | TMEM216 CL E G H | 51259 | 25018 | OMIM:603194 | Meckel syndrome, type 2 | . | | | 45 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2752 | Orofaciodigital syndrome type 3 | HP:0040282 - Frequent | | | 33 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 82 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 82 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | TMEM67 CL E G H | 91147 | 28396 | OMIM:216360 | Coach syndrome 1 | | | | 166 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 166 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 166 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | TMEM67 CL E G H | 91147 | 28396 | OMIM:607361 | Meckel syndrome 3 | . | | | 166 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | TRIM32 CL E G H | 22954 | 16380 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 108 | | |
HP:0009142 | HP:0009944 | Partial duplication of thumb phalanx | 4 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | TTC21B CL E G H | 79809 | 25660 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 132 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | TTC8 CL E G H | 123016 | 20087 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 41 | | |
HP:0009142 | HP:0009948 | Duplication of the distal phalanx of the 2nd finger | 4 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0009142 | HP:0010004 | Partial duplication of the distal phalanges of the hand | 4 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0009142 | HP:0006159 | Mesoaxial hand polydactyly | 4 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0009142 | HP:0009961 | Partial duplication of the phalanges of the 3rd finger | 4 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0009142 | HP:0009956 | Partial duplication of the phalanges of the 2nd finger | 4 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0009142 | HP:0009962 | Duplication of the distal phalanx of the 3rd finger | 4 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | TXNDC15 CL E G H | 79770 | 20652 | OMIM:619879 | | | | | 2 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | WDPCP CL E G H | 51057 | 28027 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 60 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | WDPCP CL E G H | 51057 | 28027 | OMIM:217085 | Congenital heart defects, hamartomas of tongue, and polysyndactyly | . | | | 60 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | WDR19 CL E G H | 57728 | 18340 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 95 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | . | | | 136 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | WDR35 CL E G H | 57539 | 29250 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | 136 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | WDR35 CL E G H | 57539 | 29250 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | 136 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | WNT7A CL E G H | 7476 | 12786 | OMIM:228930 | Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly | | | | 13 | | |
HP:0009142 | HP:0001162 | Postaxial hand polydactyly | 4 | ZNF141 CL E G H | 7700 | 12926 | OMIM:615226 | Polydactyly, postaxial, type A6 | . | | | 3 | | |
HP:0009142 | HP:0001177 | Preaxial hand polydactyly | 4 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0009142 | HP:0009983 | Partial duplication of the proximal phalanx of the 4th finger | 5 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009614 | Bifid proximal phalanx of the thumb | 5 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009950 | Complete duplication of the distal phalanx of the 2nd finger | 5 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009995 | Partial duplication of the middle phalanx of the 5th finger | 5 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009954 | Complete duplication of the proximal phalanx of the 2nd finger | 5 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0005676 | Rudimentary postaxial polydactyly of hands | 5 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009965 | Complete duplication of the distal phalanx of the 3rd finger | 5 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009979 | Complete duplication of the middle phalanx of the 4th finger | 5 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009994 | Partial duplication of the distal phalanx of the 5th finger | 5 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009982 | Partial duplication of the middle phalanx of the 4th finger | 5 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009993 | Complete duplication of the proximal phalanx of the 5th finger | 5 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009953 | Partial duplication of the middle phalanx of the 2nd finger | 5 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009978 | Complete duplication of the distal phalanx of the 4th finger | 5 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009992 | Complete duplication of the middle phalanx of the 5th finger | 5 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009969 | Partial duplication of the middle phalanx of the 3rd finger | 5 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009981 | Partial duplication of the distal phalanx of the 4th finger | 5 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009991 | Complete duplication of the distal phalanx of the 5th finger | 5 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009952 | Complete duplication of the middle phalanx of the 2nd finger | 5 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009955 | Partial duplication of the proximal phalanx of the 2nd finger | 5 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009615 | Complete duplication of the first metacarpal | 5 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009967 | Complete duplication of the proximal phalanx of the 3rd finger | 5 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009980 | Complete duplication of the proximal phalanx of the 4th finger | 5 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009996 | Partial duplication of the proximal phalanx of the 5th finger | 5 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009606 | Complete duplication of distal phalanx of the thumb | 5 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93384 | Brachydactyly type C | HP:0040282 - Frequent | | | 90 | | |
HP:0009142 | HP:0009611 | Bifid distal phalanx of the thumb | 5 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0009142 | HP:0009966 | Complete duplication of the middle phalanx of the 3rd finger | 5 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0009142 | HP:0009970 | Partial duplication of the proximal phalanx of the 3rd finger | 5 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0009142 | HP:0009958 | Polydactyly affecting the 3rd finger | 5 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0009142 | HP:0009608 | Complete duplication of proximal phalanx of the thumb | 5 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0009142 | HP:0009951 | Partial duplication of the distal phalanx of the 2nd finger | 5 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | . | | | 175 | | |
HP:0009142 | HP:0009946 | Polydactyly affecting the 2nd finger | 5 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0009142 | HP:0009958 | Polydactyly affecting the 3rd finger | 5 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0009142 | HP:0009968 | Partial duplication of the distal phalanx of the 3rd finger | 5 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | . | | | 175 | | |
HP:0009142 | HP:0009606 | Complete duplication of distal phalanx of the thumb | 5 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93384 | Brachydactyly type C | HP:0040282 - Frequent | | | 52 | | |
HP:0009142 | HP:0009958 | Polydactyly affecting the 3rd finger | 5 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040282 - Frequent | | | 270 | | |
HP:0009142 | HP:0009971 | Polydactyly affecting the 4th finger | 5 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040282 - Frequent | | | 270 | | |
HP:0009142 | HP:0006136 | Bilateral postaxial polydactyly | 5 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040282 - Frequent | | | 270 | | |
HP:0009142 | HP:0005696 | Postaxial polydactyly type A | 5 | KIAA0825 CL E G H | 285600 | 28532 | OMIM:618498 | Polydactyly, postaxial, type A10 | | | | | | |
HP:0009142 | HP:0009611 | Bifid distal phalanx of the thumb | 5 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | . | | | 167 | | |
HP:0009142 | HP:0009606 | Complete duplication of distal phalanx of the thumb | 5 | LMBR1 CL E G H | 64327 | 13243 | OMIM:174500 | Polydactyly, preaxial II | . | | | 106 | | |
HP:0009142 | HP:0006136 | Bilateral postaxial polydactyly | 5 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0009142 | HP:0009611 | Bifid distal phalanx of the thumb | 5 | PAH CL E G H | 5053 | 8582 | ORPHA:2209 | Maternal phenylketonuria | HP:0040284 - Very rare | | | 641 | | |
HP:0009142 | HP:0009611 | Bifid distal phalanx of the thumb | 5 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | HP:0040284 - Very rare | | | | | |
HP:0009142 | HP:0009608 | Complete duplication of proximal phalanx of the thumb | 5 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0009142 | HP:0009616 | Bifid first metacarpal | 5 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0009142 | HP:0009958 | Polydactyly affecting the 3rd finger | 5 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0009142 | HP:0009968 | Partial duplication of the distal phalanx of the 3rd finger | 5 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | . | | | 18 | | |
HP:0009142 | HP:0009946 | Polydactyly affecting the 2nd finger | 5 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0009142 | HP:0009951 | Partial duplication of the distal phalanx of the 2nd finger | 5 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | . | | | 18 | | |
HP:0009142 | HP:0005696 | Postaxial polydactyly type A | 5 | WDPCP CL E G H | 51057 | 28027 | OMIM:217085 | Congenital heart defects, hamartomas of tongue, and polysyndactyly | | | | 60 | | |
HP:0009142 | HP:0009972 | Duplication of phalanx of 4th finger | 6 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009959 | Duplication of phalanx of 3rd finger | 6 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0009142 | HP:0009959 | Duplication of phalanx of 3rd finger | 6 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0009142 | HP:0009945 | Duplication of phalanx of 2nd finger | 6 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0009142 | HP:0009959 | Duplication of phalanx of 3rd finger | 6 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0009142 | HP:0009945 | Duplication of phalanx of 2nd finger | 6 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0009142 | HP:0009976 | Duplication of the middle phalanx of the 4th finger | 7 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009949 | Duplication of the middle phalanx of the 2nd finger | 7 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009975 | Duplication of the distal phalanx of the 4th finger | 7 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009957 | Complete duplication of the phalanges of the 2nd finger | 7 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009947 | Duplication of the proximal phalanx of the 2nd finger | 7 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009974 | Partial duplication of the phalanges of the 4th finger | 7 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009977 | Duplication of the proximal phalanx of the 4th finger | 7 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009973 | Complete duplication of the phalanges of the 4th finger | 7 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009963 | Duplication of the middle phalanx of the 3rd finger | 7 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0009142 | HP:0009961 | Partial duplication of the phalanges of the 3rd finger | 7 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0009142 | HP:0009964 | Duplication of the proximal phalanx of the 3rd finger | 7 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0009142 | HP:0009960 | Complete duplication of the phalanges of the 3rd finger | 7 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0009142 | HP:0009956 | Partial duplication of the phalanges of the 2nd finger | 7 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0009142 | HP:0009962 | Duplication of the distal phalanx of the 3rd finger | 7 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0009142 | HP:0009948 | Duplication of the distal phalanx of the 2nd finger | 7 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0009142 | HP:0009961 | Partial duplication of the phalanges of the 3rd finger | 7 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0009142 | HP:0009961 | Partial duplication of the phalanges of the 3rd finger | 7 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0009142 | HP:0009956 | Partial duplication of the phalanges of the 2nd finger | 7 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0009142 | HP:0009962 | Duplication of the distal phalanx of the 3rd finger | 7 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0009142 | HP:0009948 | Duplication of the distal phalanx of the 2nd finger | 7 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0009142 | HP:0009954 | Complete duplication of the proximal phalanx of the 2nd finger | 8 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009965 | Complete duplication of the distal phalanx of the 3rd finger | 8 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009979 | Complete duplication of the middle phalanx of the 4th finger | 8 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009982 | Partial duplication of the middle phalanx of the 4th finger | 8 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009953 | Partial duplication of the middle phalanx of the 2nd finger | 8 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009978 | Complete duplication of the distal phalanx of the 4th finger | 8 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009969 | Partial duplication of the middle phalanx of the 3rd finger | 8 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009981 | Partial duplication of the distal phalanx of the 4th finger | 8 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009952 | Complete duplication of the middle phalanx of the 2nd finger | 8 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009955 | Partial duplication of the proximal phalanx of the 2nd finger | 8 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009967 | Complete duplication of the proximal phalanx of the 3rd finger | 8 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009980 | Complete duplication of the proximal phalanx of the 4th finger | 8 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009983 | Partial duplication of the proximal phalanx of the 4th finger | 8 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009950 | Complete duplication of the distal phalanx of the 2nd finger | 8 | CL E G H | | | | | | | | | | |
HP:0009142 | HP:0009966 | Complete duplication of the middle phalanx of the 3rd finger | 8 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0009142 | HP:0009970 | Partial duplication of the proximal phalanx of the 3rd finger | 8 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0009142 | HP:0009968 | Partial duplication of the distal phalanx of the 3rd finger | 8 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | . | | | 175 | | |
HP:0009142 | HP:0009951 | Partial duplication of the distal phalanx of the 2nd finger | 8 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | . | | | 175 | | |
HP:0009142 | HP:0009968 | Partial duplication of the distal phalanx of the 3rd finger | 8 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | . | | | 18 | | |
HP:0009142 | HP:0009951 | Partial duplication of the distal phalanx of the 2nd finger | 8 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | . | | | 18 | | |