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:0009958 | HP:0009958 | Polydactyly affecting the 3rd finger | 0 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0009958 | HP:0009958 | Polydactyly affecting the 3rd finger | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0009958 | HP:0009958 | Polydactyly affecting the 3rd finger | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040282 - Frequent | | | 270 | | |
HP:0009958 | HP:0009958 | Polydactyly affecting the 3rd finger | 0 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0009958 | HP:0009959 | Duplication of phalanx of 3rd finger | 1 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0009958 | HP:0009959 | Duplication of phalanx of 3rd finger | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0009958 | HP:0009959 | Duplication of phalanx of 3rd finger | 1 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0009958 | HP:0009961 | Partial duplication of the phalanges of the 3rd finger | 2 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0009958 | HP:0009964 | Duplication of the proximal phalanx of the 3rd finger | 2 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0009958 | HP:0009960 | Complete duplication of the phalanges of the 3rd finger | 2 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0009958 | HP:0009963 | Duplication of the middle phalanx of the 3rd finger | 2 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0009958 | HP:0009962 | Duplication of the distal phalanx of the 3rd finger | 2 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0009958 | HP:0009961 | Partial duplication of the phalanges of the 3rd finger | 2 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0009958 | HP:0009961 | Partial duplication of the phalanges of the 3rd finger | 2 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0009958 | HP:0009962 | Duplication of the distal phalanx of the 3rd finger | 2 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0009958 | HP:0009969 | Partial duplication of the middle phalanx of the 3rd finger | 3 | CL E G H | | | | | | | | | | |
HP:0009958 | HP:0009967 | Complete duplication of the proximal phalanx of the 3rd finger | 3 | CL E G H | | | | | | | | | | |
HP:0009958 | HP:0009965 | Complete duplication of the distal phalanx of the 3rd finger | 3 | CL E G H | | | | | | | | | | |
HP:0009958 | HP:0009966 | Complete duplication of the middle phalanx of the 3rd finger | 3 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0009958 | HP:0009970 | Partial duplication of the proximal phalanx of the 3rd finger | 3 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0009958 | HP:0009968 | Partial duplication of the distal phalanx of the 3rd finger | 3 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | . | | | 175 | | |
HP:0009958 | HP:0009968 | Partial duplication of the distal phalanx of the 3rd finger | 3 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | . | | | 18 | | |