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:
Talipes (HP:0001883)

Parent Node:
Talipes equinovarus (HP:0001762)

..Starting node
..Bilateral talipes equinovarus (HP:0001776)

Term ID:

1776

Name:

Bilateral talipes equinovarus

Synonym:

Bilateral clubfeet; Bilateral clubfoot; Club foot on both sides

Definition:

Bilateral clubfoot deformity (see HP:0001762).

Comments:

Reference:

HP:0001776

Genes and Diseases:

Child Nodes:

Sister Nodes:

Talipes cavus equinovarus (HP:0004696)

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:0001776	HP:0001776	Bilateral talipes equinovarus	0	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME		38
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome		749
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	.	1
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS		72
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.	51
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C		52
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive		5
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39		13
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.	77
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	HP:0040282 - Frequent	77
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF		8
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040283 - Occasional	27
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency	.
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040282 - Frequent	34
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent	166
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040282 - Frequent	166
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia		9
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type		1129
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita		1129
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional	1
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional	7
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele		111
HP:0001776	HP:0001776	Bilateral talipes equinovarus	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39

Genes (35) :ABHD16A B3GALT6 BMPR1B CHD7 CLCN3 COL3A1 CTU2 DHCR24 EBP FANCL GDAP1 GDF5 MAN2B1 MAN2C1 MAPK1 MFSD2A MYT1L PI4KA PIEZO2 PITX1 PLOD3 PRUNE1 PSAT1 RSPO2 SATB2 SH3PXD2B SLC26A2 SLC35D1 SNRPN SOX9 SYNE1 SYT1 UBE2A VANGL1 ZIC3

Diseases (38) :OMIM:619735 OMIM:609465 OMIM:609441 OMIM:214800 OMIM:619512 OMIM:618343 OMIM:618142 OMIM:602398 OMIM:302960 OMIM:614083 ORPHA:99948 OMIM:615072 ORPHA:309282 OMIM:619775 OMIM:619087 OMIM:616486 OMIM:616521 OMIM:619708 OMIM:108145 ORPHA:1154 OMIM:119800 OMIM:612394 ORPHA:544469 ORPHA:284417 OMIM:618022 ORPHA:251028 OMIM:249420 ORPHA:56304 ORPHA:93307 OMIM:269250 ORPHA:177907 OMIM:114290 OMIM:618484 ORPHA:319332 ORPHA:522077 ORPHA:163956 OMIM:600145 OMIM:306955

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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