Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of toe (HP:0001780)

Parent Node:
Abnormality of the hallux (HP:0001844)

Parent Node:
Broad toe (HP:0001837)

..Starting node
..Broad hallux (HP:0010055)

Term ID:

10055

Name:

Broad hallux

Synonym:

Abnormally broad great toes; Broad big toe; Broad great toe; Broad great toes; Broad halluces; Wide big toe

Definition:

Visible increase in width of the hallux without an increase in the dorso-ventral dimension.

Comments:

Reference:

HP:0010055

Genes and Diseases:

Child Nodes:

........

Broad distal hallux (HP:0008111)

Sister Nodes:

Broad 2nd toe (HP:0100040)

Broad 3rd toe (HP:0100041)

Broad 4th toe (HP:0100042)

Broad 5th toe (HP:0100043)

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

Genes (69) :ABCC9 ACAN ADNP ASPH BCOR BMP2 BMPR1B BPTF C2CD3 CCDC22 CHST11 COL2A1 CREBBP DLX5 DNM1L EBP EFNB1 EP300 FGF10 FGF9 FGFR1 FGFR2 FGFR3 FLNA GATA6 GDF5 GJA5 GJA8 GLI3 GPC4 HNRNPR HOXD13 IL11RA KCNH1 KIAA0753 KMT2B LBR LRP4 MED12 MEIS2 NAA10 NBAS NEK1 NKX2-5 NKX2-6 NOG NPR2 PDE4D PIGO PPP2R1A PUF60 PYCR2 RHOA SATB2 SCNM1 SETBP1 SF3B4 SIAH1 SMC1A SUMF1 TAF6 TBX1 TNNT3 TWIST1 UBE2A USP9X WDPCP ZEB2 ZMIZ1

Diseases (73) :OMIM:239850 OMIM:165800 ORPHA:404448 OMIM:601552 OMIM:300166 OMIM:112600 OMIM:617755 ORPHA:434179 OMIM:300963 OMIM:618167 ORPHA:1856 OMIM:618332 OMIM:180849 ORPHA:353281 ORPHA:353277 OMIM:183600 OMIM:614388 ORPHA:401973 OMIM:304110 OMIM:613684 ORPHA:353284 OMIM:149730 OMIM:612961 OMIM:123150 OMIM:101600 OMIM:101200 OMIM:602849 OMIM:300321 OMIM:311300 OMIM:304120 OMIM:217095 OMIM:612474 OMIM:175700 OMIM:301026 OMIM:620073 OMIM:186000 OMIM:614188 OMIM:611816 OMIM:617127 OMIM:619934 OMIM:618019 OMIM:212780 OMIM:305450 OMIM:600987 OMIM:300855 ORPHA:276432 OMIM:614800 ORPHA:2751 OMIM:184460 OMIM:615923 ORPHA:439822 OMIM:614749 OMIM:616362 ORPHA:457284 ORPHA:508498 ORPHA:481152 OMIM:618727 ORPHA:251028 OMIM:620107 OMIM:616078 OMIM:154400 OMIM:619314 OMIM:301044 OMIM:272200 OMIM:617126 OMIM:618435 OMIM:180750 OMIM:300860 OMIM:300919 OMIM:217085 ORPHA:261552 ORPHA:261537 OMIM:618659

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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