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:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | ANKRD11 CL E G H | 29123 | 21316 | OMIM:148050 | Kbg syndrome | | | | 102 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:2332 | KBG syndrome | HP:0040282 - Frequent | | | 102 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | HP:0040284 - Very rare | | | 5 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | | | | 101 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | BHLHA9 CL E G H | 727857 | 35126 | OMIM:607539 | Camptosynpolydactyly, complex | . | | | 4 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | BLTP1 CL E G H | 84162 | 26953 | OMIM:617822 | Alkuraya-Kucinskas syndrome | . | | | | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:601005 | Timothy syndrome | . | | | 572 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | | | | 34 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | | | | 147 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | CDH1 CL E G H | 999 | 1748 | OMIM:119580 | Blepharocheilodontic syndrome 1 | HP:0040284 - Very rare | | | 1003 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | CDH11 CL E G H | 1009 | 1750 | OMIM:211380 | Elsahy-Waters syndrome | . | | | 2 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | CEP55 CL E G H | 55165 | 1161 | OMIM:236500 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | | | | 2 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | CHUK CL E G H | 1147 | 1974 | OMIM:619339 | BARTSOCAS-PAPAS SYNDROME 2; BPS2 | | | | 3 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | CKAP2L CL E G H | 150468 | 26877 | OMIM:272440 | Filippi syndrome | . | | | 7 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:618332 | MENKE-HENNEKAM SYNDROME 1; MKHK1 | | | | 291 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | CTNND1 CL E G H | 1500 | 2515 | OMIM:617681 | Blepharocheilodontic syndrome 2 | HP:0040284 - Very rare | | | | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | DCHS1 CL E G H | 8642 | 13681 | OMIM:601390 | Van maldergem syndrome 1 | | | | 27 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | | | | 134 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:618333 | MENKE-HENNEKAM SYNDROME 2; MKHK2 | | | | 250 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | FAT4 CL E G H | 79633 | 23109 | OMIM:615546 | Van maldergem syndrome 2 | | | | 114 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | FGF16 CL E G H | 8823 | 3672 | OMIM:309630 | Metacarpal 4-5 fusion | | | | 3 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | FGF9 CL E G H | 2254 | 3687 | OMIM:612961 | Multiple synostoses syndrome 3 | | | | 75 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | | | | 175 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | FRAS1 CL E G H | 80144 | 19185 | OMIM:219000 | Fraser syndrome | | | | 353 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | FREM2 CL E G H | 341640 | 25396 | OMIM:617666 | Fraser syndrome 2 | . | | | 263 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:257850 | Oculodentodigital dysplasia, autosomal recessive | | | | 68 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | | | | 270 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:93322 | Tibial hemimelia | | | | 270 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | GRIP1 CL E G H | 23426 | 18708 | OMIM:617667 | Fraser syndrome 3 | . | | | 80 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | H4C9 CL E G H | 8294 | 4793 | OMIM:619951 | | | | | | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186300 | Syndactyly, type V | | | | 25 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | IRF6 CL E G H | 3664 | 6121 | OMIM:119500 | Popliteal pterygium syndrome | | | | 99 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | KCTD1 CL E G H | 284252 | 18249 | OMIM:181270 | Scalp-Ear-Nipple syndrome | | | | 11 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:166024 | Multiple epiphyseal dysplasia, Al-Gazali type | HP:0040283 - Occasional | | | 167 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:1306 | Buschke-Ollendorff syndrome | | | | 68 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | LMBR1 CL E G H | 64327 | 13243 | OMIM:186200 | Syndactyly, type IV | | | | 106 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | LRP4 CL E G H | 4038 | 6696 | OMIM:614305 | Sclerosteosis 2 | | | | 124 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:488232 | Split-foot malformation-mesoaxial polydactyly syndrome | | | | 2 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | | | | 3 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | | | | 950 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | MEIS2 CL E G H | 4212 | 7001 | OMIM:600987 | Cleft palate, cardiac defects, and mental retardation | . | | | 7 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | MYH8 CL E G H | 4626 | 7578 | OMIM:158300 | Arthrogryposis, distal, type 7 | | | | 93 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | NECTIN1 CL E G H | 5818 | 9706 | OMIM:225060 | Cleft lip/palate-ectodermal dysplasia syndrome | | | | 4 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | NECTIN4 CL E G H | 81607 | 19688 | OMIM:613573 | Ectodermal dysplasia-syndactyly syndrome 1 | | | | 7 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | NOG CL E G H | 9241 | 7866 | OMIM:611377 | Brachydactyly, type B2 | | | | 22 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | | | | 53 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | PAX3 CL E G H | 5077 | 8617 | ORPHA:896 | Waardenburg syndrome type 3 | | | | 59 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | PAX3 CL E G H | 5077 | 8617 | OMIM:148820 | Waardenburg syndrome, type 3 | | | | 59 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:114300 | Arthrogryposis, distal, type 3 | | | | 77 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | | | | | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | RBM10 CL E G H | 8241 | 9896 | OMIM:311900 | Tarp syndrome | . | | | 16 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | ROR2 CL E G H | 4920 | 10257 | OMIM:113000 | Brachydactyly, type B1 | | | | 120 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | | | | 11 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:616078 | Mental retardation, autosomal dominant 29 | | | | 143 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | SLC39A8 CL E G H | 64116 | 20862 | ORPHA:468699 | SLC39A8-CDG | | | | 11 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | SMARCAD1 CL E G H | 56916 | 18398 | OMIM:129200 | Basan syndrome | | | | 6 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | SVBP CL E G H | 374969 | 29204 | OMIM:618569 | NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM | | | | | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | HP:0040284 - Very rare | | | 271 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | . | | | 1 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:69085 | Limb-mammary syndrome | | | | 140 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | | | | 140 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | | | | 2 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | TWIST1 CL E G H | 7291 | 12428 | OMIM:617746 | Sweeney-Cox syndrome | . | | | 18 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:200110 | Ablepharon-Macrostomia syndrome | | | | 7 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614378 | Cranioectodermal dysplasia 4 | | | | 95 | | |
HP:0012725 | HP:0012725 | Cutaneous syndactyly | 0 | XYLT1 CL E G H | 64131 | 15516 | OMIM:615777 | Desbuquois dysplasia 2 | HP:0040284 - Very rare | | | 14 | | |
HP:0012725 | HP:0010621 | Cutaneous syndactyly of toes | 1 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | | | | 101 | | |
HP:0012725 | HP:0010621 | Cutaneous syndactyly of toes | 1 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0012725 | HP:0010554 | Cutaneous finger syndactyly | 1 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0012725 | HP:0010621 | Cutaneous syndactyly of toes | 1 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | | | | 34 | | |
HP:0012725 | HP:0010554 | Cutaneous finger syndactyly | 1 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | . | | | 147 | | |
HP:0012725 | HP:0010554 | Cutaneous finger syndactyly | 1 | CDH11 CL E G H | 1009 | 1750 | OMIM:211380 | Elsahy-Waters syndrome | | | | 2 | | |
HP:0012725 | HP:0010554 | Cutaneous finger syndactyly | 1 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0012725 | HP:0010554 | Cutaneous finger syndactyly | 1 | CHUK CL E G H | 1147 | 1974 | OMIM:619339 | BARTSOCAS-PAPAS SYNDROME 2; BPS2 | | | | 3 | | |
HP:0012725 | HP:0010621 | Cutaneous syndactyly of toes | 1 | CREBBP CL E G H | 1387 | 2348 | OMIM:618332 | MENKE-HENNEKAM SYNDROME 1; MKHK1 | | | | 291 | | |
HP:0012725 | HP:0010554 | Cutaneous finger syndactyly | 1 | DCHS1 CL E G H | 8642 | 13681 | OMIM:601390 | Van maldergem syndrome 1 | . | | | 27 | | |
HP:0012725 | HP:0010621 | Cutaneous syndactyly of toes | 1 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0012725 | HP:0010621 | Cutaneous syndactyly of toes | 1 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | | | | 134 | | |
HP:0012725 | HP:0010621 | Cutaneous syndactyly of toes | 1 | EP300 CL E G H | 2033 | 3373 | OMIM:618333 | MENKE-HENNEKAM SYNDROME 2; MKHK2 | | | | 250 | | |
HP:0012725 | HP:0010554 | Cutaneous finger syndactyly | 1 | FAT4 CL E G H | 79633 | 23109 | OMIM:615546 | Van maldergem syndrome 2 | . | | | 114 | | |
HP:0012725 | HP:0010621 | Cutaneous syndactyly of toes | 1 | FGF16 CL E G H | 8823 | 3672 | OMIM:309630 | Metacarpal 4-5 fusion | | | | 3 | | |
HP:0012725 | HP:0010621 | Cutaneous syndactyly of toes | 1 | FGF9 CL E G H | 2254 | 3687 | OMIM:612961 | Multiple synostoses syndrome 3 | HP:0040284 - Very rare | | | 75 | | |
HP:0012725 | HP:0010554 | Cutaneous finger syndactyly | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | . | | | 175 | | |
HP:0012725 | HP:0010554 | Cutaneous finger syndactyly | 1 | FRAS1 CL E G H | 80144 | 19185 | OMIM:219000 | Fraser syndrome | . | | | 353 | | |
HP:0012725 | HP:0010621 | Cutaneous syndactyly of toes | 1 | GJA1 CL E G H | 2697 | 4274 | OMIM:257850 | Oculodentodigital dysplasia, autosomal recessive | | | | 68 | | |
HP:0012725 | HP:0010554 | Cutaneous finger syndactyly | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | | | | 270 | | |
HP:0012725 | HP:0010554 | Cutaneous finger syndactyly | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:93322 | Tibial hemimelia | HP:0040283 - Occasional | | | 270 | | |
HP:0012725 | HP:0010554 | Cutaneous finger syndactyly | 1 | H4C9 CL E G H | 8294 | 4793 | OMIM:619951 | | | | | | | |
HP:0012725 | HP:0010554 | Cutaneous finger syndactyly | 1 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186300 | Syndactyly, type V | . | | | 25 | | |
HP:0012725 | HP:0010554 | Cutaneous finger syndactyly | 1 | IRF6 CL E G H | 3664 | 6121 | OMIM:119500 | Popliteal pterygium syndrome | . | | | 99 | | |
HP:0012725 | HP:0010554 | Cutaneous finger syndactyly | 1 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0012725 | HP:0010554 | Cutaneous finger syndactyly | 1 | KCTD1 CL E G H | 284252 | 18249 | OMIM:181270 | Scalp-Ear-Nipple syndrome | | | | 11 | | |
HP:0012725 | HP:0010554 | Cutaneous finger syndactyly | 1 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:1306 | Buschke-Ollendorff syndrome | HP:0040284 - Very rare | | | 68 | | |
HP:0012725 | HP:0010554 | Cutaneous finger syndactyly | 1 | LMBR1 CL E G H | 64327 | 13243 | OMIM:186200 | Syndactyly, type IV | | | | 106 | | |
HP:0012725 | HP:0010554 | Cutaneous finger syndactyly | 1 | LRP4 CL E G H | 4038 | 6696 | OMIM:614305 | Sclerosteosis 2 | . | | | 124 | | |
HP:0012725 | HP:0010621 | Cutaneous syndactyly of toes | 1 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:488232 | Split-foot malformation-mesoaxial polydactyly syndrome | | | | 2 | | |
HP:0012725 | HP:0010621 | Cutaneous syndactyly of toes | 1 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | | | | 3 | | |
HP:0012725 | HP:0010621 | Cutaneous syndactyly of toes | 1 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | | | | 950 | | |
HP:0012725 | HP:0010554 | Cutaneous finger syndactyly | 1 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | . | | | 13 | | |
HP:0012725 | HP:0010621 | Cutaneous syndactyly of toes | 1 | MYH8 CL E G H | 4626 | 7578 | OMIM:158300 | Arthrogryposis, distal, type 7 | . | | | 93 | | |
HP:0012725 | HP:0010554 | Cutaneous finger syndactyly | 1 | NECTIN1 CL E G H | 5818 | 9706 | OMIM:225060 | Cleft lip/palate-ectodermal dysplasia syndrome | . | | | 4 | | |
HP:0012725 | HP:0010621 | Cutaneous syndactyly of toes | 1 | NECTIN1 CL E G H | 5818 | 9706 | OMIM:225060 | Cleft lip/palate-ectodermal dysplasia syndrome | . | | | 4 | | |
HP:0012725 | HP:0010554 | Cutaneous finger syndactyly | 1 | NECTIN4 CL E G H | 81607 | 19688 | OMIM:613573 | Ectodermal dysplasia-syndactyly syndrome 1 | . | | | 7 | | |
HP:0012725 | HP:0010621 | Cutaneous syndactyly of toes | 1 | NECTIN4 CL E G H | 81607 | 19688 | OMIM:613573 | Ectodermal dysplasia-syndactyly syndrome 1 | | | | 7 | | |
HP:0012725 | HP:0010554 | Cutaneous finger syndactyly | 1 | NOG CL E G H | 9241 | 7866 | OMIM:611377 | Brachydactyly, type B2 | | | | 22 | | |
HP:0012725 | HP:0010621 | Cutaneous syndactyly of toes | 1 | NOG CL E G H | 9241 | 7866 | OMIM:611377 | Brachydactyly, type B2 | | | | 22 | | |
HP:0012725 | HP:0010554 | Cutaneous finger syndactyly | 1 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | . | | | 22 | | |
HP:0012725 | HP:0010554 | Cutaneous finger syndactyly | 1 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | . | | | 53 | | |
HP:0012725 | HP:0010554 | Cutaneous finger syndactyly | 1 | PAX3 CL E G H | 5077 | 8617 | ORPHA:896 | Waardenburg syndrome type 3 | HP:0040281 - Very frequent | | | 59 | | |
HP:0012725 | HP:0010554 | Cutaneous finger syndactyly | 1 | PAX3 CL E G H | 5077 | 8617 | OMIM:148820 | Waardenburg syndrome, type 3 | . | | | 59 | | |
HP:0012725 | HP:0010554 | Cutaneous finger syndactyly | 1 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:114300 | Arthrogryposis, distal, type 3 | . | | | 77 | | |
HP:0012725 | HP:0010554 | Cutaneous finger syndactyly | 1 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | | | | | | |
HP:0012725 | HP:0010554 | Cutaneous finger syndactyly | 1 | ROR2 CL E G H | 4920 | 10257 | OMIM:113000 | Brachydactyly, type B1 | HP:0040283 - Occasional | HP:0003577 - Congenital onset | | 120 | | |
HP:0012725 | HP:0010621 | Cutaneous syndactyly of toes | 1 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0012725 | HP:0010621 | Cutaneous syndactyly of toes | 1 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | | | | 11 | | |
HP:0012725 | HP:0010554 | Cutaneous finger syndactyly | 1 | SETBP1 CL E G H | 26040 | 15573 | OMIM:616078 | Mental retardation, autosomal dominant 29 | | | | 143 | | |
HP:0012725 | HP:0010621 | Cutaneous syndactyly of toes | 1 | SLC39A8 CL E G H | 64116 | 20862 | ORPHA:468699 | SLC39A8-CDG | HP:0040283 - Occasional | | | 11 | | |
HP:0012725 | HP:0010621 | Cutaneous syndactyly of toes | 1 | SMARCAD1 CL E G H | 56916 | 18398 | OMIM:129200 | Basan syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0012725 | HP:0010621 | Cutaneous syndactyly of toes | 1 | SVBP CL E G H | 374969 | 29204 | OMIM:618569 | NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM | | | | | | |
HP:0012725 | HP:0010554 | Cutaneous finger syndactyly | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:69085 | Limb-mammary syndrome | | | | 140 | | |
HP:0012725 | HP:0010621 | Cutaneous syndactyly of toes | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | | | | 140 | | |
HP:0012725 | HP:0010621 | Cutaneous syndactyly of toes | 1 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | | | | 2 | | |
HP:0012725 | HP:0010554 | Cutaneous finger syndactyly | 1 | TWIST2 CL E G H | 117581 | 20670 | OMIM:200110 | Ablepharon-Macrostomia syndrome | | | | 7 | | |
HP:0012725 | HP:0010554 | Cutaneous finger syndactyly | 1 | WDR19 CL E G H | 57728 | 18340 | OMIM:614378 | Cranioectodermal dysplasia 4 | HP:0040283 - Occasional | | | 95 | | |
HP:0012725 | HP:0005709 | 2-3 toe cutaneous syndactyly | 2 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | | | | 101 | | |
HP:0012725 | HP:0011939 | 3-4 finger cutaneous syndactyly | 2 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0012725 | HP:0005709 | 2-3 toe cutaneous syndactyly | 2 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0012725 | HP:0005709 | 2-3 toe cutaneous syndactyly | 2 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | | | | 34 | | |
HP:0012725 | HP:0005768 | 2-4 toe cutaneous syndactyly | 2 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | | | | 34 | | |
HP:0012725 | HP:0005650 | 2-5 finger cutaneous syndactyly | 2 | CHUK CL E G H | 1147 | 1974 | OMIM:619339 | BARTSOCAS-PAPAS SYNDROME 2; BPS2 | | | | 3 | | |
HP:0012725 | HP:0005709 | 2-3 toe cutaneous syndactyly | 2 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0012725 | HP:0005768 | 2-4 toe cutaneous syndactyly | 2 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | HP:0040282 - Frequent | | | 134 | | |
HP:0012725 | HP:0005709 | 2-3 toe cutaneous syndactyly | 2 | FGF16 CL E G H | 8823 | 3672 | OMIM:309630 | Metacarpal 4-5 fusion | | | | 3 | | |
HP:0012725 | HP:0005768 | 2-4 toe cutaneous syndactyly | 2 | GJA1 CL E G H | 2697 | 4274 | OMIM:257850 | Oculodentodigital dysplasia, autosomal recessive | . | | | 68 | | |
HP:0012725 | HP:0011939 | 3-4 finger cutaneous syndactyly | 2 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040282 - Frequent | | | 270 | | |
HP:0012725 | HP:0011939 | 3-4 finger cutaneous syndactyly | 2 | H4C9 CL E G H | 8294 | 4793 | OMIM:619951 | | | | | | | |
HP:0012725 | HP:0011939 | 3-4 finger cutaneous syndactyly | 2 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0012725 | HP:0011939 | 3-4 finger cutaneous syndactyly | 2 | KCTD1 CL E G H | 284252 | 18249 | OMIM:181270 | Scalp-Ear-Nipple syndrome | . | | | 11 | | |
HP:0012725 | HP:0006088 | 1-5 finger complete cutaneous syndactyly | 2 | LMBR1 CL E G H | 64327 | 13243 | OMIM:186200 | Syndactyly, type IV | . | | | 106 | | |
HP:0012725 | HP:0005767 | 1-2 toe complete cutaneous syndactyly | 2 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:488232 | Split-foot malformation-mesoaxial polydactyly syndrome | | | | 2 | | |
HP:0012725 | HP:0005709 | 2-3 toe cutaneous syndactyly | 2 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | HP:0040282 - Frequent | | | 3 | | |
HP:0012725 | HP:0005709 | 2-3 toe cutaneous syndactyly | 2 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | | | | 950 | | |
HP:0012725 | HP:0005709 | 2-3 toe cutaneous syndactyly | 2 | NECTIN4 CL E G H | 81607 | 19688 | OMIM:613573 | Ectodermal dysplasia-syndactyly syndrome 1 | . | | | 7 | | |
HP:0012725 | HP:0005709 | 2-3 toe cutaneous syndactyly | 2 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0012725 | HP:0005709 | 2-3 toe cutaneous syndactyly | 2 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | | | | 11 | | |
HP:0012725 | HP:0005768 | 2-4 toe cutaneous syndactyly | 2 | SVBP CL E G H | 374969 | 29204 | OMIM:618569 | NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM | | | | | | |
HP:0012725 | HP:0011939 | 3-4 finger cutaneous syndactyly | 2 | TP63 CL E G H | 8626 | 15979 | ORPHA:69085 | Limb-mammary syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0012725 | HP:0005709 | 2-3 toe cutaneous syndactyly | 2 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | | | | 140 | | |
HP:0012725 | HP:0005709 | 2-3 toe cutaneous syndactyly | 2 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | | | | 2 | | |