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:0006152	HP:0006152	Proximal symphalangism of hands	0	BHLHA9 CL E G H	727857	35126	OMIM:609432	Syndactyly, mesoaxial synostotic, with phalangeal reduction		4
HP:0006152	HP:0006152	Proximal symphalangism of hands	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040282 - Frequent	16
HP:0006152	HP:0006152	Proximal symphalangism of hands	0	GDF5 CL E G H	8200	4220	OMIM:615298	SYMPHALANGISM, PROXIMAL, 1B; SYM1B		52
HP:0006152	HP:0006152	Proximal symphalangism of hands	0	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2		22
HP:0006152	HP:0006152	Proximal symphalangism of hands	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0006152	HP:0006152	Proximal symphalangism of hands	0	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes		22
HP:0006152	HP:0006152	Proximal symphalangism of hands	0	NOG CL E G H	9241	7866	OMIM:185800	Symphalangism, proximal, 1A		22
HP:0006152	HP:0006152	Proximal symphalangism of hands	0	NOG CL E G H	9241	7866	OMIM:186570	Tarsal-Carpal coalition syndrome		22
HP:0006152	HP:0006152	Proximal symphalangism of hands	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0006152	HP:0006152	Proximal symphalangism of hands	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0006152	HP:0006152	Proximal symphalangism of hands	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0006152	HP:0006152	Proximal symphalangism of hands	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0006152	HP:0009579	Proximal/middle symphalangism of the 2nd finger	1	CL E G H
HP:0006152	HP:0009482	Proximal/middle symphalangism of 3rd finger	1	CL E G H
HP:0006152	HP:0009177	Proximal/middle symphalangism of 5th finger	1	BHLHA9 CL E G H	727857	35126	OMIM:609432	Syndactyly, mesoaxial synostotic, with phalangeal reduction	.	4
HP:0006152	HP:0009177	Proximal/middle symphalangism of 5th finger	1	GDF5 CL E G H	8200	4220	OMIM:615298	SYMPHALANGISM, PROXIMAL, 1B; SYM1B		52
HP:0006152	HP:0009477	Proximal/middle symphalangism of 4th finger	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0006152	HP:0009177	Proximal/middle symphalangism of 5th finger	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0006152	HP:0009177	Proximal/middle symphalangism of 5th finger	1	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes	.	22
HP:0006152	HP:0009640	Synostosis of the proximal phalanx of the thumb with the 1st metacarpal	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0006152	HP:0009640	Synostosis of the proximal phalanx of the thumb with the 1st metacarpal	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.	28
HP:0006152	HP:0009177	Proximal/middle symphalangism of 5th finger	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120