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:0012165 | HP:0012165 | Oligodactyly | 0 | APC CL E G H | 324 | 583 | ORPHA:3258 | Cenani-Lenz syndrome | HP:0040281 - Very frequent | | | 3179 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | BHLHA9 CL E G H | 727857 | 35126 | ORPHA:1986 | Gollop-Wolfgang complex | | | | 4 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | BTRC CL E G H | 8945 | 1144 | ORPHA:2440 | Isolated split hand-split foot malformation | HP:0040281 - Very frequent | | | 2 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | CYP26B1 CL E G H | 56603 | 20581 | OMIM:614416 | RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES; RHFCA | | | | 4 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | DLL4 CL E G H | 54567 | 2910 | OMIM:616589 | Adams-Oliver syndrome 6 | | | | 9 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | DLX5 CL E G H | 1749 | 2918 | ORPHA:2440 | Isolated split hand-split foot malformation | HP:0040281 - Very frequent | | | 3 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | DLX5 CL E G H | 1749 | 2918 | OMIM:183600 | Split-Hand/foot malformation 1 | | | | 3 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | DLX6 CL E G H | 1750 | 2919 | ORPHA:2440 | Isolated split hand-split foot malformation | HP:0040281 - Very frequent | | | | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | DONSON CL E G H | 29980 | 2993 | OMIM:251230 | Microcephaly-Micromelia syndrome | . | | | 9 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | EPS15L1 CL E G H | 58513 | 24634 | ORPHA:2440 | Isolated split hand-split foot malformation | HP:0040281 - Very frequent | | | | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | | | | 92 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | FBXW4 CL E G H | 6468 | 10847 | ORPHA:2440 | Isolated split hand-split foot malformation | HP:0040281 - Very frequent | | | 37 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:93322 | Tibial hemimelia | HP:0040283 - Occasional | | | 270 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | H4C3 CL E G H | 8364 | 4787 | OMIM:619758 | TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1 | | | | | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | HOXD13 CL E G H | 3239 | 5136 | OMIM:610713 | BRACHYDACTYLY-SYNDACTYLY SYNDROME; BDSD | | | | 25 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | LRP4 CL E G H | 4038 | 6696 | ORPHA:3258 | Cenani-Lenz syndrome | HP:0040281 - Very frequent | | | 124 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 494 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | | | | 494 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | | | | 20 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 25 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:1225 | Baller-Gerold syndrome | | | | 445 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | SEM1 CL E G H | 7979 | 10845 | ORPHA:2440 | Isolated split hand-split foot malformation | HP:0040281 - Very frequent | | | | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | | | | 49 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | SF3B4 CL E G H | 10262 | 10771 | ORPHA:1788 | Acrofacial dysostosis, RodrÃguez type | | | | 49 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 135 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 91 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | | | | 15 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | SMOC1 CL E G H | 64093 | 20318 | OMIM:206920 | Microphthalmia with limb anomalies | | | | 15 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:2440 | Isolated split hand-split foot malformation | HP:0040281 - Very frequent | | | 140 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:69085 | Limb-mammary syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | WNT10B CL E G H | 7480 | 12775 | ORPHA:2440 | Isolated split hand-split foot malformation | HP:0040281 - Very frequent | | | 4 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | WNT10B CL E G H | 7480 | 12775 | OMIM:225300 | SPLIT-HAND/FOOT MALFORMATION 6; SHFM6 | | | | 4 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | WNT7A CL E G H | 7476 | 12786 | OMIM:228930 | Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly | | | | 13 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | WNT7A CL E G H | 7476 | 12786 | ORPHA:2879 | Phocomelia, Schinzel type | | | | 13 | | |
HP:0012165 | HP:0012165 | Oligodactyly | 0 | WNT7A CL E G H | 7476 | 12786 | OMIM:276820 | Ulna and fibula, absence of, with severe limb deficiency | | | | 13 | | |
HP:0012165 | HP:0001849 | Foot oligodactyly | 1 | APC CL E G H | 324 | 583 | ORPHA:3258 | Cenani-Lenz syndrome | HP:0040283 - Occasional | | | 3179 | | |
HP:0012165 | HP:0001180 | Hand oligodactyly | 1 | BHLHA9 CL E G H | 727857 | 35126 | ORPHA:1986 | Gollop-Wolfgang complex | | | | 4 | | |
HP:0012165 | HP:0001180 | Hand oligodactyly | 1 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0012165 | HP:0001849 | Foot oligodactyly | 1 | DLL4 CL E G H | 54567 | 2910 | OMIM:616589 | Adams-Oliver syndrome 6 | . | | | 9 | | |
HP:0012165 | HP:0001180 | Hand oligodactyly | 1 | DLX5 CL E G H | 1749 | 2918 | OMIM:183600 | Split-Hand/foot malformation 1 | | | | 3 | | |
HP:0012165 | HP:0001849 | Foot oligodactyly | 1 | DLX5 CL E G H | 1749 | 2918 | OMIM:183600 | Split-Hand/foot malformation 1 | | | | 3 | | |
HP:0012165 | HP:0001180 | Hand oligodactyly | 1 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | . | | | 92 | | |
HP:0012165 | HP:0001849 | Foot oligodactyly | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:93322 | Tibial hemimelia | HP:0040283 - Occasional | | | 270 | | |
HP:0012165 | HP:0001849 | Foot oligodactyly | 1 | LRP4 CL E G H | 4038 | 6696 | ORPHA:3258 | Cenani-Lenz syndrome | HP:0040283 - Occasional | | | 124 | | |
HP:0012165 | HP:0001180 | Hand oligodactyly | 1 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | . | | | 494 | | |
HP:0012165 | HP:0001180 | Hand oligodactyly | 1 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0012165 | HP:0001849 | Foot oligodactyly | 1 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0012165 | HP:0001180 | Hand oligodactyly | 1 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:1225 | Baller-Gerold syndrome | HP:0040281 - Very frequent | | | 445 | | |
HP:0012165 | HP:0001849 | Foot oligodactyly | 1 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | . | | | 49 | | |
HP:0012165 | HP:0001180 | Hand oligodactyly | 1 | SF3B4 CL E G H | 10262 | 10771 | ORPHA:1788 | Acrofacial dysostosis, RodrÃguez type | HP:0040281 - Very frequent | | | 49 | | |
HP:0012165 | HP:0001849 | Foot oligodactyly | 1 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | HP:0040282 - Frequent | | | 15 | | |
HP:0012165 | HP:0001849 | Foot oligodactyly | 1 | SMOC1 CL E G H | 64093 | 20318 | OMIM:206920 | Microphthalmia with limb anomalies | . | | | 15 | | |
HP:0012165 | HP:0001180 | Hand oligodactyly | 1 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | HP:0040282 - Frequent | | | 15 | | |
HP:0012165 | HP:0001180 | Hand oligodactyly | 1 | SMOC1 CL E G H | 64093 | 20318 | OMIM:206920 | Microphthalmia with limb anomalies | . | | | 15 | | |
HP:0012165 | HP:0001849 | Foot oligodactyly | 1 | WNT10B CL E G H | 7480 | 12775 | OMIM:225300 | SPLIT-HAND/FOOT MALFORMATION 6; SHFM6 | | | | 4 | | |
HP:0012165 | HP:0001180 | Hand oligodactyly | 1 | WNT10B CL E G H | 7480 | 12775 | OMIM:225300 | SPLIT-HAND/FOOT MALFORMATION 6; SHFM6 | | | | 4 | | |
HP:0012165 | HP:0001849 | Foot oligodactyly | 1 | WNT7A CL E G H | 7476 | 12786 | OMIM:228930 | Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly | | | | 13 | | |
HP:0012165 | HP:0001180 | Hand oligodactyly | 1 | WNT7A CL E G H | 7476 | 12786 | OMIM:228930 | Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly | | | | 13 | | |
HP:0012165 | HP:0001180 | Hand oligodactyly | 1 | WNT7A CL E G H | 7476 | 12786 | ORPHA:2879 | Phocomelia, Schinzel type | HP:0040281 - Very frequent | | | 13 | | |
HP:0012165 | HP:0001849 | Foot oligodactyly | 1 | WNT7A CL E G H | 7476 | 12786 | ORPHA:2879 | Phocomelia, Schinzel type | HP:0040281 - Very frequent | | | 13 | | |
HP:0012165 | HP:0001849 | Foot oligodactyly | 1 | WNT7A CL E G H | 7476 | 12786 | OMIM:276820 | Ulna and fibula, absence of, with severe limb deficiency | | | | 13 | | |
HP:0012165 | HP:0001180 | Hand oligodactyly | 1 | WNT7A CL E G H | 7476 | 12786 | OMIM:276820 | Ulna and fibula, absence of, with severe limb deficiency | | | | 13 | | |
HP:0012165 | HP:0200054 | Foot monodactyly | 2 | CL E G H | | | | | | | | | | |
HP:0012165 | HP:0006230 | Unilateral oligodactyly | 2 | CL E G H | | | | | | | | | | |
HP:0012165 | HP:0006210 | Postaxial oligodactyly | 2 | CL E G H | | | | | | | | | | |
HP:0012165 | HP:0004058 | Hand monodactyly | 2 | BHLHA9 CL E G H | 727857 | 35126 | ORPHA:1986 | Gollop-Wolfgang complex | HP:0040281 - Very frequent | | | 4 | | |
HP:0012165 | HP:0004058 | Hand monodactyly | 2 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | HP:0040283 - Occasional | | | 515 | | |