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:0001180 | HP:0001180 | Hand oligodactyly | 0 | BHLHA9 CL E G H | 727857 | 35126 | ORPHA:1986 | Gollop-Wolfgang complex | | | | 4 | | |
HP:0001180 | HP:0001180 | Hand oligodactyly | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0001180 | HP:0001180 | Hand oligodactyly | 0 | DLX5 CL E G H | 1749 | 2918 | OMIM:183600 | Split-Hand/foot malformation 1 | | | | 3 | | |
HP:0001180 | HP:0001180 | Hand oligodactyly | 0 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | . | | | 92 | | |
HP:0001180 | HP:0001180 | Hand oligodactyly | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | . | | | 494 | | |
HP:0001180 | HP:0001180 | Hand oligodactyly | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0001180 | HP:0001180 | Hand oligodactyly | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:1225 | Baller-Gerold syndrome | HP:0040281 - Very frequent | | | 445 | | |
HP:0001180 | HP:0001180 | Hand oligodactyly | 0 | SF3B4 CL E G H | 10262 | 10771 | ORPHA:1788 | Acrofacial dysostosis, RodrÃguez type | HP:0040281 - Very frequent | | | 49 | | |
HP:0001180 | HP:0001180 | Hand oligodactyly | 0 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | HP:0040282 - Frequent | | | 15 | | |
HP:0001180 | HP:0001180 | Hand oligodactyly | 0 | SMOC1 CL E G H | 64093 | 20318 | OMIM:206920 | Microphthalmia with limb anomalies | . | | | 15 | | |
HP:0001180 | HP:0001180 | Hand oligodactyly | 0 | WNT10B CL E G H | 7480 | 12775 | OMIM:225300 | SPLIT-HAND/FOOT MALFORMATION 6; SHFM6 | | | | 4 | | |
HP:0001180 | HP:0001180 | Hand oligodactyly | 0 | WNT7A CL E G H | 7476 | 12786 | OMIM:228930 | Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly | | | | 13 | | |
HP:0001180 | HP:0001180 | Hand oligodactyly | 0 | WNT7A CL E G H | 7476 | 12786 | ORPHA:2879 | Phocomelia, Schinzel type | HP:0040281 - Very frequent | | | 13 | | |
HP:0001180 | HP:0001180 | Hand oligodactyly | 0 | WNT7A CL E G H | 7476 | 12786 | OMIM:276820 | Ulna and fibula, absence of, with severe limb deficiency | | | | 13 | | |
HP:0001180 | HP:0006230 | Unilateral oligodactyly | 1 | CL E G H | | | | | | | | | | |
HP:0001180 | HP:0006210 | Postaxial oligodactyly | 1 | CL E G H | | | | | | | | | | |
HP:0001180 | HP:0004058 | Hand monodactyly | 1 | BHLHA9 CL E G H | 727857 | 35126 | ORPHA:1986 | Gollop-Wolfgang complex | HP:0040281 - Very frequent | | | 4 | | |
HP:0001180 | HP:0004058 | Hand monodactyly | 1 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | HP:0040283 - Occasional | | | 515 | | |