Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004218	HP:0004218	Symphalangism of the 5th finger	0	BHLHA9 CL E G H	727857	35126	OMIM:609432	Syndactyly, mesoaxial synostotic, with phalangeal reduction		4
HP:0004218	HP:0004218	Symphalangism of the 5th finger	0	GDF5 CL E G H	8200	4220	OMIM:615298	SYMPHALANGISM, PROXIMAL, 1B; SYM1B		52
HP:0004218	HP:0004218	Symphalangism of the 5th finger	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0004218	HP:0004218	Symphalangism of the 5th finger	0	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes		22
HP:0004218	HP:0004218	Symphalangism of the 5th finger	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0004218	HP:0004218	Symphalangism of the 5th finger	0	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome		104
HP:0004218	HP:0004218	Symphalangism of the 5th finger	0	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome	HP:0040283 - Occasional	104
HP:0004218	HP:0009178	Symphalangism of middle phalanx of 5th finger	1	BHLHA9 CL E G H	727857	35126	OMIM:609432	Syndactyly, mesoaxial synostotic, with phalangeal reduction		4
HP:0004218	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:0004218	HP:0009178	Symphalangism of middle phalanx of 5th finger	1	GDF5 CL E G H	8200	4220	OMIM:615298	SYMPHALANGISM, PROXIMAL, 1B; SYM1B		52
HP:0004218	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:0004218	HP:0009178	Symphalangism of middle phalanx of 5th finger	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0004218	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:0004218	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:0004218	HP:0009178	Symphalangism of middle phalanx of 5th finger	1	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes		22
HP:0004218	HP:0009178	Symphalangism of middle phalanx of 5th finger	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0004218	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:0004218	HP:0009178	Symphalangism of middle phalanx of 5th finger	1	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome		104
HP:0004218	HP:0009234	Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal	2	CL E G H
HP:0004218	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:0004218	HP:0009177	Proximal/middle symphalangism of 5th finger	2	GDF5 CL E G H	8200	4220	OMIM:615298	SYMPHALANGISM, PROXIMAL, 1B; SYM1B		52
HP:0004218	HP:0009177	Proximal/middle symphalangism of 5th finger	2	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0004218	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:0004218	HP:0009177	Proximal/middle symphalangism of 5th finger	2	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0004218	HP:0009244	Distal/middle symphalangism of 5th finger	2	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome	.	104