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:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia		254
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		254
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva		49
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva		49
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	BHLHA9 CL E G H	727857	35126	ORPHA:157801	Mesoaxial synostotic syndactyly with phalangeal reduction	HP:0040281 - Very frequent	4
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	BHLHA9 CL E G H	727857	35126	OMIM:609432	Syndactyly, mesoaxial synostotic, with phalangeal reduction	.	4
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2		13
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	BMPR1B CL E G H	658	1077	ORPHA:93388	Brachydactyly type A1		90
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2		90
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	CHST11 CL E G H	50515	17422	OMIM:618167	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits		1
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome		16
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1		172
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1		175
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2		175
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3		175
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1		493
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	GDF5 CL E G H	8200	4220	ORPHA:93388	Brachydactyly type A1		52
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2		52
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia		270
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	HOXD13 CL E G H	3239	5136	ORPHA:93387	Brachydactyly type E		25
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	IHH CL E G H	3549	5956	ORPHA:93388	Brachydactyly type A1		44
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		23
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome		2
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome		33
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	PTHLH CL E G H	5744	9607	ORPHA:93387	Brachydactyly type E		6
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0008362	HP:0008362	Aplasia/Hypoplasia of the hallux	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0008362	HP:0010109	Short hallux	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0008362	HP:0010109	Short hallux	1	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	254
HP:0008362	HP:0010058	Aplasia/Hypoplasia of the phalanges of the hallux	1	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva	HP:0040282 - Frequent	49
HP:0008362	HP:0010109	Short hallux	1	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	.	49
HP:0008362	HP:0010109	Short hallux	1	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva	HP:0040281 - Very frequent	49
HP:0008362	HP:0010109	Short hallux	1	BHLHA9 CL E G H	727857	35126	ORPHA:157801	Mesoaxial synostotic syndactyly with phalangeal reduction	HP:0040281 - Very frequent	4
HP:0008362	HP:0010109	Short hallux	1	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2	.	13
HP:0008362	HP:0010109	Short hallux	1	BMPR1B CL E G H	658	1077	ORPHA:93388	Brachydactyly type A1	HP:0040281 - Very frequent	90
HP:0008362	HP:0010109	Short hallux	1	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2	.	90
HP:0008362	HP:0010109	Short hallux	1	CHST11 CL E G H	50515	17422	OMIM:618167	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits	.	1
HP:0008362	HP:0010109	Short hallux	1	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional	16
HP:0008362	HP:0010109	Short hallux	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	1
HP:0008362	HP:0010109	Short hallux	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0008362	HP:0010109	Short hallux	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0008362	HP:0010109	Short hallux	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0008362	HP:0010109	Short hallux	1	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0008362	HP:0010109	Short hallux	1	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040281 - Very frequent	172
HP:0008362	HP:0010109	Short hallux	1	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040281 - Very frequent	175
HP:0008362	HP:0010109	Short hallux	1	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040281 - Very frequent	175
HP:0008362	HP:0010109	Short hallux	1	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040281 - Very frequent	175
HP:0008362	HP:0010109	Short hallux	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0008362	HP:0010109	Short hallux	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0008362	HP:0010058	Aplasia/Hypoplasia of the phalanges of the hallux	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0008362	HP:0012386	Absent hallux	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0008362	HP:0010109	Short hallux	1	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1	HP:0040281 - Very frequent	493
HP:0008362	HP:0010109	Short hallux	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040281 - Very frequent	493
HP:0008362	HP:0010109	Short hallux	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0008362	HP:0010109	Short hallux	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0008362	HP:0010109	Short hallux	1	GDF5 CL E G H	8200	4220	ORPHA:93388	Brachydactyly type A1	HP:0040281 - Very frequent	52
HP:0008362	HP:0010109	Short hallux	1	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2	.	52
HP:0008362	HP:0010109	Short hallux	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional	68
HP:0008362	HP:0012386	Absent hallux	1	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional	270
HP:0008362	HP:0010109	Short hallux	1	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome	HP:0040281 - Very frequent
HP:0008362	HP:0010109	Short hallux	1	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0008362	HP:0010109	Short hallux	1	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040281 - Very frequent	11
HP:0008362	HP:0010058	Aplasia/Hypoplasia of the phalanges of the hallux	1	HOXD13 CL E G H	3239	5136	ORPHA:93387	Brachydactyly type E		25
HP:0008362	HP:0010109	Short hallux	1	IHH CL E G H	3549	5956	ORPHA:93388	Brachydactyly type A1	HP:0040281 - Very frequent	44
HP:0008362	HP:0010109	Short hallux	1	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0008362	HP:0010058	Aplasia/Hypoplasia of the phalanges of the hallux	1	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0008362	HP:0010109	Short hallux	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0008362	HP:0010109	Short hallux	1	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	23
HP:0008362	HP:0010109	Short hallux	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0008362	HP:0010109	Short hallux	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0008362	HP:0010058	Aplasia/Hypoplasia of the phalanges of the hallux	1	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome		2
HP:0008362	HP:0010109	Short hallux	1	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.	33
HP:0008362	HP:0010109	Short hallux	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0008362	HP:0010109	Short hallux	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0008362	HP:0010109	Short hallux	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	118
HP:0008362	HP:0010109	Short hallux	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0008362	HP:0010109	Short hallux	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	7
HP:0008362	HP:0010058	Aplasia/Hypoplasia of the phalanges of the hallux	1	PTHLH CL E G H	5744	9607	ORPHA:93387	Brachydactyly type E		6
HP:0008362	HP:0010109	Short hallux	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0008362	HP:0010109	Short hallux	1	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040282 - Frequent	86
HP:0008362	HP:0010109	Short hallux	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0008362	HP:0010058	Aplasia/Hypoplasia of the phalanges of the hallux	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0008362	HP:0010111	Short phalanx of hallux	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0008362	HP:0010110	Aplasia of the phalanges of the hallux	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0008362	HP:0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0008362	HP:0010085	Aplasia/Hypoplasia of the proximal phalanx of the hallux	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0008362	HP:0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux	2	HOXD13 CL E G H	3239	5136	ORPHA:93387	Brachydactyly type E	HP:0040283 - Occasional	25
HP:0008362	HP:0010085	Aplasia/Hypoplasia of the proximal phalanx of the hallux	2	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0008362	HP:0010111	Short phalanx of hallux	2	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0008362	HP:0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux	2	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome		2
HP:0008362	HP:0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux	2	PTHLH CL E G H	5744	9607	ORPHA:93387	Brachydactyly type E	HP:0040283 - Occasional	6
HP:0008362	HP:0010085	Aplasia/Hypoplasia of the proximal phalanx of the hallux	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0008362	HP:0010111	Short phalanx of hallux	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0008362	HP:0010110	Aplasia of the phalanges of the hallux	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0008362	HP:0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0008362	HP:0010106	Aplasia of the proximal phalanx of the hallux	3	CL E G H
HP:0008362	HP:0010103	Short distal phalanx of hallux	3	CL E G H
HP:0008362	HP:0010107	Short proximal phalanx of hallux	3	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040281 - Very frequent	111
HP:0008362	HP:0010102	Aplasia of the distal phalanx of the hallux	3	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040281 - Very frequent	111
HP:0008362	HP:0010107	Short proximal phalanx of hallux	3	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0008362	HP:0010107	Short proximal phalanx of hallux	3	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040281 - Very frequent	6
HP:0008362	HP:0010102	Aplasia of the distal phalanx of the hallux	3	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040281 - Very frequent	6