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 varus (HP:0008080)

Term ID:

8080

Name:

Hallux varus

Synonym:

Medially deviated halluces

Definition:

Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially.

Comments:

Reference:

HP:0008080

Genes and Diseases:

Child Nodes:

Sister Nodes:

Clinodactyly of hallux (HP:0040018)

Hallux valgus (HP:0001822)

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:0008080	HP:0008080	Hallux varus	0	FGF9 CL E G H	2254	3687	OMIM:612961	Multiple synostoses syndrome 3	HP:0040284 - Very rare	75
HP:0008080	HP:0008080	Hallux varus	0	FGFR1 CL E G H	2260	3688	OMIM:123150	Jackson-Weiss syndrome	.	172
HP:0008080	HP:0008080	Hallux varus	0	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040281 - Very frequent	172
HP:0008080	HP:0008080	Hallux varus	0	FGFR2 CL E G H	2263	3689	OMIM:123150	Jackson-Weiss syndrome	.	175
HP:0008080	HP:0008080	Hallux varus	0	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040281 - Very frequent	175
HP:0008080	HP:0008080	Hallux varus	0	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040281 - Very frequent	175
HP:0008080	HP:0008080	Hallux varus	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040281 - Very frequent	175
HP:0008080	HP:0008080	Hallux varus	0	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0008080	HP:0008080	Hallux varus	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040282 - Frequent	11

Genes (4) :FGF9 FGFR1 FGFR2 HOXA13

Diseases (7) :OMIM:612961 OMIM:123150 ORPHA:93258 ORPHA:93259 ORPHA:93260 OMIM:140000 ORPHA:2438

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