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 the hallux (HP:0001844)

Grandparent Node:
Deviation of toes (HP:0100498)

Parent Node:
Deviation of the hallux (HP:0010051)

..Starting node
..Hallux valgus (HP:0001822)

Term ID:

1822

Name:

Hallux valgus

Synonym:

Bunion; Lateral deviation of great toe; Lateral deviation of halluces

Definition:

Lateral deviation of the great toe (i.e., in the direction of the little toe).

Comments:

Reference:

HP:0001822

Genes and Diseases:

Child Nodes:

Sister Nodes:

Clinodactyly of hallux (HP:0040018)

Hallux varus (HP:0008080)

Proximal placement of hallux (HP:0011926)

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:0001822	HP:0001822	Hallux valgus	0	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva	HP:0040283 - Occasional	49
HP:0001822	HP:0001822	Hallux valgus	0	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	.	49
HP:0001822	HP:0001822	Hallux valgus	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040281 - Very frequent
HP:0001822	HP:0001822	Hallux valgus	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0001822	HP:0001822	Hallux valgus	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0001822	HP:0001822	Hallux valgus	0	ATL3 CL E G H	25923	24526	OMIM:615632	Neuropathy, hereditary sensory, type IF	.	5
HP:0001822	HP:0001822	Hallux valgus	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional	5
HP:0001822	HP:0001822	Hallux valgus	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	38
HP:0001822	HP:0001822	Hallux valgus	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0001822	HP:0001822	Hallux valgus	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		5
HP:0001822	HP:0001822	Hallux valgus	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001822	HP:0001822	Hallux valgus	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001822	HP:0001822	Hallux valgus	0	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2		13
HP:0001822	HP:0001822	Hallux valgus	0	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2		90
HP:0001822	HP:0001822	Hallux valgus	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001822	HP:0001822	Hallux valgus	0	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder	HP:0040283 - Occasional	405
HP:0001822	HP:0001822	Hallux valgus	0	CHST11 CL E G H	50515	17422	OMIM:618167	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits	.	1
HP:0001822	HP:0001822	Hallux valgus	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		165
HP:0001822	HP:0001822	Hallux valgus	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001822	HP:0001822	Hallux valgus	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040282 - Frequent	243
HP:0001822	HP:0001822	Hallux valgus	0	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2	.	243
HP:0001822	HP:0001822	Hallux valgus	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional	4
HP:0001822	HP:0001822	Hallux valgus	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001822	HP:0001822	Hallux valgus	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional	134
HP:0001822	HP:0001822	Hallux valgus	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7	.	134
HP:0001822	HP:0001822	Hallux valgus	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001822	HP:0001822	Hallux valgus	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0001822	HP:0001822	Hallux valgus	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0001822	HP:0001822	Hallux valgus	0	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome		12
HP:0001822	HP:0001822	Hallux valgus	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040283 - Occasional	36
HP:0001822	HP:0001822	Hallux valgus	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	175
HP:0001822	HP:0001822	Hallux valgus	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0001822	HP:0001822	Hallux valgus	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	145
HP:0001822	HP:0001822	Hallux valgus	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.	68
HP:0001822	HP:0001822	Hallux valgus	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001822	HP:0001822	Hallux valgus	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040283 - Occasional
HP:0001822	HP:0001822	Hallux valgus	0	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2		52
HP:0001822	HP:0001822	Hallux valgus	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001822	HP:0001822	Hallux valgus	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001822	HP:0001822	Hallux valgus	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001822	HP:0001822	Hallux valgus	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0001822	HP:0001822	Hallux valgus	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0001822	HP:0001822	Hallux valgus	0	HOXD13 CL E G H	3239	5136	ORPHA:93409	Brachydactyly-syndactyly, Zhao type	HP:0040282 - Frequent	25
HP:0001822	HP:0001822	Hallux valgus	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies	HP:0040283 - Occasional	8
HP:0001822	HP:0001822	Hallux valgus	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0001822	HP:0001822	Hallux valgus	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional	13
HP:0001822	HP:0001822	Hallux valgus	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional	7
HP:0001822	HP:0001822	Hallux valgus	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001822	HP:0001822	Hallux valgus	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001822	HP:0001822	Hallux valgus	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001822	HP:0001822	Hallux valgus	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0001822	HP:0001822	Hallux valgus	0	MYH3 CL E G H	4621	7573	OMIM:618436	Arthrogryposis, distal, type 2B3	.	166
HP:0001822	HP:0001822	Hallux valgus	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0001822	HP:0001822	Hallux valgus	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0001822	HP:0001822	Hallux valgus	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0001822	HP:0001822	Hallux valgus	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0001822	HP:0001822	Hallux valgus	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7		5
HP:0001822	HP:0001822	Hallux valgus	0	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0001822	HP:0001822	Hallux valgus	0	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040283 - Occasional	58
HP:0001822	HP:0001822	Hallux valgus	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0001822	HP:0001822	Hallux valgus	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0001822	HP:0001822	Hallux valgus	0	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome	.	68
HP:0001822	HP:0001822	Hallux valgus	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001822	HP:0001822	Hallux valgus	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.	11
HP:0001822	HP:0001822	Hallux valgus	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0001822	HP:0001822	Hallux valgus	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.	57
HP:0001822	HP:0001822	Hallux valgus	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional	68
HP:0001822	HP:0001822	Hallux valgus	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0001822	HP:0001822	Hallux valgus	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0001822	HP:0001822	Hallux valgus	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0001822	HP:0001822	Hallux valgus	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional	23
HP:0001822	HP:0001822	Hallux valgus	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001822	HP:0001822	Hallux valgus	0	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	HP:0040282 - Frequent
HP:0001822	HP:0001822	Hallux valgus	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001822	HP:0001822	Hallux valgus	0	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3	HP:0040283 - Occasional	28
HP:0001822	HP:0001822	Hallux valgus	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001822	HP:0001822	Hallux valgus	0	TP63 CL E G H	8626	15979	OMIM:603543	Limb-Mammary syndrome	.	140
HP:0001822	HP:0001822	Hallux valgus	0	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39		11
HP:0001822	HP:0001822	Hallux valgus	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18
HP:0001822	HP:0001822	Hallux valgus	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	18
HP:0001822	HP:0001822	Hallux valgus	0	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome		2
HP:0001822	HP:0001822	Hallux valgus	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27
HP:0001822	HP:0001822	Hallux valgus	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001822	HP:0001822	Hallux valgus	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7
HP:0001822	HP:0001822	Hallux valgus	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0001822	HP:0001822	Hallux valgus	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0001822	HP:0001822	Hallux valgus	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362
HP:0001822	HP:0001822	Hallux valgus	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0001822	HP:0001822	Hallux valgus	0	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040283 - Occasional	397

Genes (76) :ACVR1 AEBP1 AKT1 ATL3 ATP6V1B2 B3GALT6 B3GAT3 BAZ1B BCL7B BMP2 BMPR1B BUD23 CDKL5 CHST11 CHST3 CLIP2 COL1A2 CWC27 DNAJC30 DYRK1A EIF4H ELN ERF ERMARD FGFR2 FGFR3 FHL1 FKBP6 GBA1 GDF5 GTF2I GTF2IRD1 GTF2IRD2 H4C9 HEATR3 HOXD13 IL11RA ITCH KCNH1 KCNN3 LIMK1 METTL27 MLXIPL MYH3 NCF1 NFIX NONO NUP107 PCDHGC4 PRDM5 PSMB8 PTEN RBBP8 RFC2 SCARF2 SF3B4 SLC16A2 SLC29A3 SMARCA2 SOX9 SRY STX1A TBC1D2B TBL2 TCF12 TMEM270 TP63 TTI2 TWIST1 USP7 USP9X VPS37D YY1 ZEB2 ZMIZ1 ZNF469

Diseases (59) :ORPHA:337 OMIM:135100 ORPHA:536532 OMIM:618000 ORPHA:744 OMIM:615632 ORPHA:3473 ORPHA:536467 OMIM:271640 OMIM:245600 ORPHA:904 OMIM:112600 ORPHA:505652 OMIM:618167 ORPHA:230851 OMIM:617821 ORPHA:166035 ORPHA:268261 OMIM:614104 OMIM:194050 OMIM:617180 ORPHA:75857 ORPHA:794 OMIM:101400 OMIM:300280 ORPHA:2072 OMIM:619951 OMIM:620072 ORPHA:93409 OMIM:614188 OMIM:613385 OMIM:618436 OMIM:602535 ORPHA:466791 OMIM:300967 OMIM:618348 OMIM:619880 ORPHA:90354 OMIM:256040 OMIM:251255 OMIM:600920 OMIM:154400 OMIM:300523 ORPHA:168569 OMIM:602782 OMIM:601358 OMIM:114290 ORPHA:1772 ORPHA:397973 OMIM:615314 OMIM:603543 OMIM:615541 OMIM:616863 ORPHA:480880 ORPHA:506358 OMIM:617557 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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