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:0009468	HP:0009468	Deviation of the 2nd finger	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0009468	HP:0009468	Deviation of the 2nd finger	0	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2		13
HP:0009468	HP:0009468	Deviation of the 2nd finger	0	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2		90
HP:0009468	HP:0009468	Deviation of the 2nd finger	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0009468	HP:0009468	Deviation of the 2nd finger	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome		16
HP:0009468	HP:0009468	Deviation of the 2nd finger	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0009468	HP:0009468	Deviation of the 2nd finger	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0009468	HP:0009468	Deviation of the 2nd finger	0	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2		52
HP:0009468	HP:0009468	Deviation of the 2nd finger	0	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C		52
HP:0009468	HP:0009468	Deviation of the 2nd finger	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0009468	HP:0009468	Deviation of the 2nd finger	0	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0009468	HP:0009468	Deviation of the 2nd finger	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0009468	HP:0009468	Deviation of the 2nd finger	0	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0009468	HP:0009468	Deviation of the 2nd finger	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0009468	HP:0009468	Deviation of the 2nd finger	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0009468	HP:0009468	Deviation of the 2nd finger	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0009468	HP:0009468	Deviation of the 2nd finger	0	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040283 - Occasional	163
HP:0009468	HP:0009468	Deviation of the 2nd finger	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0009468	HP:0009468	Deviation of the 2nd finger	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease		6
HP:0009468	HP:0009468	Deviation of the 2nd finger	0	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome		6
HP:0009468	HP:0009468	Deviation of the 2nd finger	0	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome		6
HP:0009468	HP:0009464	Ulnar deviation of the 2nd finger	1	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0009468	HP:0009464	Ulnar deviation of the 2nd finger	1	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2	.	13
HP:0009468	HP:0009467	Radial deviation of the 2nd finger	1	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2		13
HP:0009468	HP:0009464	Ulnar deviation of the 2nd finger	1	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2	.	90
HP:0009468	HP:0009467	Radial deviation of the 2nd finger	1	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2		90
HP:0009468	HP:0009467	Radial deviation of the 2nd finger	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0009468	HP:0040022	Clinodactyly of the 2nd finger	1	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional	16
HP:0009468	HP:0040022	Clinodactyly of the 2nd finger	1	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0009468	HP:0009467	Radial deviation of the 2nd finger	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0009468	HP:0009467	Radial deviation of the 2nd finger	1	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2		52
HP:0009468	HP:0009464	Ulnar deviation of the 2nd finger	1	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2	.	52
HP:0009468	HP:0009464	Ulnar deviation of the 2nd finger	1	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C	HP:0040282 - Frequent	52
HP:0009468	HP:0040022	Clinodactyly of the 2nd finger	1	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0009468	HP:0009464	Ulnar deviation of the 2nd finger	1	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0009468	HP:0040022	Clinodactyly of the 2nd finger	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0009468	HP:0009467	Radial deviation of the 2nd finger	1	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1	.	44
HP:0009468	HP:0040022	Clinodactyly of the 2nd finger	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0009468	HP:0040022	Clinodactyly of the 2nd finger	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040283 - Occasional	228
HP:0009468	HP:0040022	Clinodactyly of the 2nd finger	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0009468	HP:0009464	Ulnar deviation of the 2nd finger	1	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040283 - Occasional	6
HP:0009468	HP:0009467	Radial deviation of the 2nd finger	1	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040283 - Occasional	6
HP:0009468	HP:0009464	Ulnar deviation of the 2nd finger	1	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome	.	6