Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 lower limb joint (HP:0100491)

Parent Node:
Abnormality of the ankles (HP:0003028)

..Starting node
..Talipes valgus (HP:0004684)

Term ID:

4684

Name:

Talipes valgus

Synonym:

Definition:

Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot.

Comments:

Reference:

HP:0004684

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ankle clonus (HP:0011448)

Ankle flexion contracture (HP:0006466)

Ankle swelling (HP:0001785)

Distal tibial bowing (HP:0006414)

Enlargement of the ankles (HP:0003029)

Increased laxity of ankles (HP:0006460)

Limitation of movement at ankles (HP:0010505)

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:0004684	HP:0004684	Talipes valgus	0	ADGRV1 CL E G H	84059	17416	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	530
HP:0004684	HP:0004684	Talipes valgus	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0004684	HP:0004684	Talipes valgus	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	.	19
HP:0004684	HP:0004684	Talipes valgus	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0004684	HP:0004684	Talipes valgus	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare	96
HP:0004684	HP:0004684	Talipes valgus	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare	102
HP:0004684	HP:0004684	Talipes valgus	0	GABRD CL E G H	2563	4084	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	10
HP:0004684	HP:0004684	Talipes valgus	0	GABRG2 CL E G H	2566	4087	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	139
HP:0004684	HP:0004684	Talipes valgus	0	HCN1 CL E G H	348980	4845	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	54
HP:0004684	HP:0004684	Talipes valgus	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0004684	HP:0004684	Talipes valgus	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0004684	HP:0004684	Talipes valgus	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0004684	HP:0004684	Talipes valgus	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0004684	HP:0004684	Talipes valgus	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	.	135
HP:0004684	HP:0004684	Talipes valgus	0	SCN1A CL E G H	6323	10585	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	1053
HP:0004684	HP:0004684	Talipes valgus	0	SCN1B CL E G H	6324	10586	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	126
HP:0004684	HP:0004684	Talipes valgus	0	SCN2A CL E G H	6326	10588	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	427
HP:0004684	HP:0004684	Talipes valgus	0	SCN9A CL E G H	6335	10597	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	318
HP:0004684	HP:0004684	Talipes valgus	0	STX1B CL E G H	112755	18539	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	9

Genes (19) :ADGRV1 CARS1 CHMP1A DNMT3A EXT1 EXT2 GABRD GABRG2 HCN1 HNRNPH1 LIFR MAN2B1 NONO RAB3GAP2 SCN1A SCN1B SCN2A SCN9A STX1B

Diseases (10) :ORPHA:36387 OMIM:618891 OMIM:614961 OMIM:615879 ORPHA:321 OMIM:620083 OMIM:601559 ORPHA:309282 ORPHA:466791 OMIM:212720

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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