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:0001837	HP:0001837	Broad toe	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia		254
HP:0001837	HP:0001837	Broad toe	0	ACAN CL E G H	176	319	OMIM:165800	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans		34
HP:0001837	HP:0001837	Broad toe	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome		47
HP:0001837	HP:0001837	Broad toe	0	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs		4
HP:0001837	HP:0001837	Broad toe	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0001837	HP:0001837	Broad toe	0	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2		13
HP:0001837	HP:0001837	Broad toe	0	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2		90
HP:0001837	HP:0001837	Broad toe	0	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL		2
HP:0001837	HP:0001837	Broad toe	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0001837	HP:0001837	Broad toe	0	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2		33
HP:0001837	HP:0001837	Broad toe	0	CHST11 CL E G H	50515	17422	OMIM:618167	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits		1
HP:0001837	HP:0001837	Broad toe	0	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome		284
HP:0001837	HP:0001837	Broad toe	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0001837	HP:0001837	Broad toe	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0001837	HP:0001837	Broad toe	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		291
HP:0001837	HP:0001837	Broad toe	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0001837	HP:0001837	Broad toe	0	DLX5 CL E G H	1749	2918	OMIM:183600	Split-Hand/foot malformation 1		3
HP:0001837	HP:0001837	Broad toe	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0001837	HP:0001837	Broad toe	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0001837	HP:0001837	Broad toe	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome		51
HP:0001837	HP:0001837	Broad toe	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome		27
HP:0001837	HP:0001837	Broad toe	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0001837	HP:0001837	Broad toe	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2		250
HP:0001837	HP:0001837	Broad toe	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0001837	HP:0001837	Broad toe	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0001837	HP:0001837	Broad toe	0	FGF9 CL E G H	2254	3687	OMIM:612961	Multiple synostoses syndrome 3		75
HP:0001837	HP:0001837	Broad toe	0	FGFR1 CL E G H	2260	3688	OMIM:123150	Jackson-Weiss syndrome		172
HP:0001837	HP:0001837	Broad toe	0	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome		172
HP:0001837	HP:0001837	Broad toe	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0001837	HP:0001837	Broad toe	0	FGFR2 CL E G H	2263	3689	OMIM:123150	Jackson-Weiss syndrome		175
HP:0001837	HP:0001837	Broad toe	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0001837	HP:0001837	Broad toe	0	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome		175
HP:0001837	HP:0001837	Broad toe	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0001837	HP:0001837	Broad toe	0	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome		145
HP:0001837	HP:0001837	Broad toe	0	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2		493
HP:0001837	HP:0001837	Broad toe	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0001837	HP:0001837	Broad toe	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0001837	HP:0001837	Broad toe	0	GATA6 CL E G H	2627	4174	OMIM:217095	Conotruncal heart malformations		37
HP:0001837	HP:0001837	Broad toe	0	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2		52
HP:0001837	HP:0001837	Broad toe	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0001837	HP:0001837	Broad toe	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0001837	HP:0001837	Broad toe	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0001837	HP:0001837	Broad toe	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0001837	HP:0001837	Broad toe	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1	.	73
HP:0001837	HP:0001837	Broad toe	0	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome
HP:0001837	HP:0001837	Broad toe	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1	.
HP:0001837	HP:0001837	Broad toe	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0001837	HP:0001837	Broad toe	0	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1		25
HP:0001837	HP:0001837	Broad toe	0	HPGD CL E G H	3248	5154	ORPHA:217059	Isolated congenital digital clubbing		55
HP:0001837	HP:0001837	Broad toe	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0001837	HP:0001837	Broad toe	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies		8
HP:0001837	HP:0001837	Broad toe	0	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome		13
HP:0001837	HP:0001837	Broad toe	0	KIAA0753 CL E G H	9851	29110	OMIM:617127	Orofaciodigital syndrome XV		4
HP:0001837	HP:0001837	Broad toe	0	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0001837	HP:0001837	Broad toe	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0001837	HP:0001837	Broad toe	0	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome		124
HP:0001837	HP:0001837	Broad toe	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0001837	HP:0001837	Broad toe	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0001837	HP:0001837	Broad toe	0	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation		7
HP:0001837	HP:0001837	Broad toe	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome		23
HP:0001837	HP:0001837	Broad toe	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0001837	HP:0001837	Broad toe	0	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly		25
HP:0001837	HP:0001837	Broad toe	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0001837	HP:0001837	Broad toe	0	NKX2-5 CL E G H	1482	2488	OMIM:217095	Conotruncal heart malformations		90
HP:0001837	HP:0001837	Broad toe	0	NKX2-6 CL E G H	137814	32940	OMIM:217095	Conotruncal heart malformations		3
HP:0001837	HP:0001837	Broad toe	0	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes		22
HP:0001837	HP:0001837	Broad toe	0	NPR2 CL E G H	4882	7944	OMIM:615923	Epiphyseal chondrodysplasia, Miura type		53
HP:0001837	HP:0001837	Broad toe	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome		113
HP:0001837	HP:0001837	Broad toe	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0001837	HP:0001837	Broad toe	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0001837	HP:0001837	Broad toe	0	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36		13
HP:0001837	HP:0001837	Broad toe	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome		13
HP:0001837	HP:0001837	Broad toe	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0001837	HP:0001837	Broad toe	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0001837	HP:0001837	Broad toe	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy		11
HP:0001837	HP:0001837	Broad toe	0	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB		8
HP:0001837	HP:0001837	Broad toe	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0001837	HP:0001837	Broad toe	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement		34
HP:0001837	HP:0001837	Broad toe	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0001837	HP:0001837	Broad toe	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29		143
HP:0001837	HP:0001837	Broad toe	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0001837	HP:0001837	Broad toe	0	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0001837	HP:0001837	Broad toe	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0001837	HP:0001837	Broad toe	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0001837	HP:0001837	Broad toe	0	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency		80
HP:0001837	HP:0001837	Broad toe	0	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome		5
HP:0001837	HP:0001837	Broad toe	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0001837	HP:0001837	Broad toe	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare	13
HP:0001837	HP:0001837	Broad toe	0	TBX1 CL E G H	6899	11592	OMIM:217095	Conotruncal heart malformations		32
HP:0001837	HP:0001837	Broad toe	0	TNNT3 CL E G H	7140	11950	OMIM:618435	Arthrogryposis, distal, type 2B2		43
HP:0001837	HP:0001837	Broad toe	0	TWIST1 CL E G H	7291	12428	OMIM:180750	Robinow-Sorauf syndrome		18
HP:0001837	HP:0001837	Broad toe	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0001837	HP:0001837	Broad toe	0	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99		27
HP:0001837	HP:0001837	Broad toe	0	WDPCP CL E G H	51057	28027	OMIM:217085	Congenital heart defects, hamartomas of tongue, and polysyndactyly		60
HP:0001837	HP:0001837	Broad toe	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0001837	HP:0001837	Broad toe	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0001837	HP:0001837	Broad toe	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0001837	HP:0001837	Broad toe	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0001837	HP:0001837	Broad toe	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0001837	HP:0100041	Broad 3rd toe	1	CL E G H
HP:0001837	HP:0100043	Broad 5th toe	1	CL E G H
HP:0001837	HP:0100042	Broad 4th toe	1	CL E G H
HP:0001837	HP:0010055	Broad hallux	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0001837	HP:0010055	Broad hallux	1	ACAN CL E G H	176	319	OMIM:165800	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	HP:0040284 - Very rare	34
HP:0001837	HP:0010055	Broad hallux	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040284 - Very rare	47
HP:0001837	HP:0010055	Broad hallux	1	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs		4
HP:0001837	HP:0010055	Broad hallux	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0001837	HP:0010055	Broad hallux	1	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2	.	13
HP:0001837	HP:0010055	Broad hallux	1	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2	.	90
HP:0001837	HP:0010055	Broad hallux	1	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL		2
HP:0001837	HP:0010055	Broad hallux	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0001837	HP:0010055	Broad hallux	1	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.	33
HP:0001837	HP:0010055	Broad hallux	1	CHST11 CL E G H	50515	17422	OMIM:618167	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits	.	1
HP:0001837	HP:0010055	Broad hallux	1	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome	HP:0040283 - Occasional	284
HP:0001837	HP:0010055	Broad hallux	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0001837	HP:0010055	Broad hallux	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0001837	HP:0010055	Broad hallux	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040282 - Frequent	291
HP:0001837	HP:0010055	Broad hallux	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040281 - Very frequent	291
HP:0001837	HP:0010055	Broad hallux	1	DLX5 CL E G H	1749	2918	OMIM:183600	Split-Hand/foot malformation 1	.	3
HP:0001837	HP:0010055	Broad hallux	1	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0001837	HP:0010055	Broad hallux	1	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent	51
HP:0001837	HP:0010055	Broad hallux	1	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0001837	HP:0010055	Broad hallux	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0001837	HP:0010055	Broad hallux	1	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2	.	250
HP:0001837	HP:0010055	Broad hallux	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040281 - Very frequent	250
HP:0001837	HP:0010055	Broad hallux	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0001837	HP:0010055	Broad hallux	1	FGF9 CL E G H	2254	3687	OMIM:612961	Multiple synostoses syndrome 3	HP:0040284 - Very rare	75
HP:0001837	HP:0010055	Broad hallux	1	FGFR1 CL E G H	2260	3688	OMIM:123150	Jackson-Weiss syndrome	.	172
HP:0001837	HP:0010055	Broad hallux	1	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome	.	172
HP:0001837	HP:0010055	Broad hallux	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0001837	HP:0010055	Broad hallux	1	FGFR2 CL E G H	2263	3689	OMIM:123150	Jackson-Weiss syndrome	.	175
HP:0001837	HP:0010055	Broad hallux	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0001837	HP:0010055	Broad hallux	1	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome	.	175
HP:0001837	HP:0010055	Broad hallux	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0001837	HP:0010055	Broad hallux	1	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome		145
HP:0001837	HP:0010055	Broad hallux	1	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2	.	493
HP:0001837	HP:0010055	Broad hallux	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0001837	HP:0010055	Broad hallux	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0001837	HP:0010055	Broad hallux	1	GATA6 CL E G H	2627	4174	OMIM:217095	Conotruncal heart malformations	.	37
HP:0001837	HP:0010055	Broad hallux	1	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2	.	52
HP:0001837	HP:0010055	Broad hallux	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.	39
HP:0001837	HP:0010055	Broad hallux	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.	34
HP:0001837	HP:0010055	Broad hallux	1	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0001837	HP:0010055	Broad hallux	1	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome	.
HP:0001837	HP:0010055	Broad hallux	1	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0001837	HP:0010055	Broad hallux	1	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1	.	25
HP:0001837	HP:0010055	Broad hallux	1	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies		8
HP:0001837	HP:0010055	Broad hallux	1	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome	.	13
HP:0001837	HP:0010055	Broad hallux	1	KIAA0753 CL E G H	9851	29110	OMIM:617127	Orofaciodigital syndrome XV	.	4
HP:0001837	HP:0010055	Broad hallux	1	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0001837	HP:0010055	Broad hallux	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0001837	HP:0010055	Broad hallux	1	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome		124
HP:0001837	HP:0010055	Broad hallux	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0001837	HP:0010055	Broad hallux	1	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation	.	7
HP:0001837	HP:0010055	Broad hallux	1	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040282 - Frequent	23
HP:0001837	HP:0010055	Broad hallux	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0001837	HP:0010055	Broad hallux	1	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly		25
HP:0001837	HP:0010055	Broad hallux	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040282 - Frequent	101
HP:0001837	HP:0010055	Broad hallux	1	NKX2-5 CL E G H	1482	2488	OMIM:217095	Conotruncal heart malformations	.	90
HP:0001837	HP:0010055	Broad hallux	1	NKX2-6 CL E G H	137814	32940	OMIM:217095	Conotruncal heart malformations	.	3
HP:0001837	HP:0010055	Broad hallux	1	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes	HP:0040281 - Very frequent	22
HP:0001837	HP:0010055	Broad hallux	1	NPR2 CL E G H	4882	7944	OMIM:615923	Epiphyseal chondrodysplasia, Miura type	.	53
HP:0001837	HP:0010055	Broad hallux	1	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040281 - Very frequent	113
HP:0001837	HP:0100040	Broad 2nd toe	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0001837	HP:0010055	Broad hallux	1	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0001837	HP:0010055	Broad hallux	1	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36	.	13
HP:0001837	HP:0010055	Broad hallux	1	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	13
HP:0001837	HP:0010055	Broad hallux	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0001837	HP:0010055	Broad hallux	1	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional	11
HP:0001837	HP:0010055	Broad hallux	1	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB		8
HP:0001837	HP:0010055	Broad hallux	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34
HP:0001837	HP:0010055	Broad hallux	1	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0001837	HP:0010055	Broad hallux	1	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29		143
HP:0001837	HP:0010055	Broad hallux	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0001837	HP:0010055	Broad hallux	1	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0001837	HP:0100040	Broad 2nd toe	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0001837	HP:0010055	Broad hallux	1	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0001837	HP:0010055	Broad hallux	1	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency	.	80
HP:0001837	HP:0010055	Broad hallux	1	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome	.	5
HP:0001837	HP:0010055	Broad hallux	1	TBX1 CL E G H	6899	11592	OMIM:217095	Conotruncal heart malformations	.	32
HP:0001837	HP:0010055	Broad hallux	1	TNNT3 CL E G H	7140	11950	OMIM:618435	Arthrogryposis, distal, type 2B2	.	43
HP:0001837	HP:0010055	Broad hallux	1	TWIST1 CL E G H	7291	12428	OMIM:180750	Robinow-Sorauf syndrome	.	18
HP:0001837	HP:0010055	Broad hallux	1	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0001837	HP:0010055	Broad hallux	1	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99		27
HP:0001837	HP:0010055	Broad hallux	1	WDPCP CL E G H	51057	28027	OMIM:217085	Congenital heart defects, hamartomas of tongue, and polysyndactyly	.	60
HP:0001837	HP:0010055	Broad hallux	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0001837	HP:0010055	Broad hallux	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362
HP:0001837	HP:0010055	Broad hallux	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0001837	HP:0008111	Broad distal hallux	2	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175