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:0009857 | HP:0009857 | Symphalangism affecting the proximal phalanges of the hand | 0 | BHLHA9 CL E G H | 727857 | 35126 | OMIM:609432 | Syndactyly, mesoaxial synostotic, with phalangeal reduction | | | | 4 | | |
HP:0009857 | HP:0009857 | Symphalangism affecting the proximal phalanges of the hand | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:615298 | SYMPHALANGISM, PROXIMAL, 1B; SYM1B | | | | 52 | | |
HP:0009857 | HP:0009857 | Symphalangism affecting the proximal phalanges of the hand | 0 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0009857 | HP:0009857 | Symphalangism affecting the proximal phalanges of the hand | 0 | NOG CL E G H | 9241 | 7866 | OMIM:184460 | Stapes ankylosis with broad thumb and toes | | | | 22 | | |
HP:0009857 | HP:0009857 | Symphalangism affecting the proximal phalanges of the hand | 0 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | | | | 120 | | |
HP:0009857 | HP:0009455 | Symphalangism affecting the proximal phalanx of the 3rd finger | 1 | CL E G H | | | | | | | | | | |
HP:0009857 | HP:0009586 | Symphalangism affecting the proximal phalanx of the 2nd finger | 1 | CL E G H | | | | | | | | | | |
HP:0009857 | HP:0009232 | Symphalangism affecting the proximal phalanx of the 5th finger | 1 | BHLHA9 CL E G H | 727857 | 35126 | OMIM:609432 | Syndactyly, mesoaxial synostotic, with phalangeal reduction | | | | 4 | | |
HP:0009857 | HP:0009232 | Symphalangism affecting the proximal phalanx of the 5th finger | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:615298 | SYMPHALANGISM, PROXIMAL, 1B; SYM1B | | | | 52 | | |
HP:0009857 | HP:0009232 | Symphalangism affecting the proximal phalanx of the 5th finger | 1 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0009857 | HP:0009314 | Symphalangism affecting the proximal phalanx of the 4th finger | 1 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0009857 | HP:0009232 | Symphalangism affecting the proximal phalanx of the 5th finger | 1 | NOG CL E G H | 9241 | 7866 | OMIM:184460 | Stapes ankylosis with broad thumb and toes | | | | 22 | | |
HP:0009857 | HP:0009232 | Symphalangism affecting the proximal phalanx of the 5th finger | 1 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | | | | 120 | | |
HP:0009857 | HP:0009483 | Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal | 2 | CL E G H | | | | | | | | | | |
HP:0009857 | HP:0009482 | Proximal/middle symphalangism of 3rd finger | 2 | CL E G H | | | | | | | | | | |
HP:0009857 | HP:0009478 | Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal | 2 | CL E G H | | | | | | | | | | |
HP:0009857 | HP:0009598 | Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal | 2 | CL E G H | | | | | | | | | | |
HP:0009857 | HP:0009234 | Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal | 2 | CL E G H | | | | | | | | | | |
HP:0009857 | HP:0009579 | Proximal/middle symphalangism of the 2nd finger | 2 | CL E G H | | | | | | | | | | |
HP:0009857 | HP:0009177 | Proximal/middle symphalangism of 5th finger | 2 | BHLHA9 CL E G H | 727857 | 35126 | OMIM:609432 | Syndactyly, mesoaxial synostotic, with phalangeal reduction | . | | | 4 | | |
HP:0009857 | HP:0009177 | Proximal/middle symphalangism of 5th finger | 2 | GDF5 CL E G H | 8200 | 4220 | OMIM:615298 | SYMPHALANGISM, PROXIMAL, 1B; SYM1B | | | | 52 | | |
HP:0009857 | HP:0009477 | Proximal/middle symphalangism of 4th finger | 2 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0009857 | HP:0009177 | Proximal/middle symphalangism of 5th finger | 2 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0009857 | HP:0009177 | Proximal/middle symphalangism of 5th finger | 2 | NOG CL E G H | 9241 | 7866 | OMIM:184460 | Stapes ankylosis with broad thumb and toes | . | | | 22 | | |
HP:0009857 | HP:0009177 | Proximal/middle symphalangism of 5th finger | 2 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | | | | 120 | | |