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)

Grandparent Node:
Flexion contracture of digit (HP:0030044)

Grandparent Node:
Foot joint contracture (HP:0008366)

Grandparent Node:
obsolete Joint contractures involving the joints of the feet (HP:0100492)

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

Parent Node:
Flexion contracture of toe (HP:0005830)

..Starting node
..Flexion contracture of the hallux (HP:0010212)

Term ID:

10212

Name:

Flexion contracture of the hallux

Synonym:

Joint contracture of the big toe; Joint contracture of the hallux

Definition:

One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively.

Comments:

Reference:

HP:0010212

Genes and Diseases:

Child Nodes:

........

Contracture of the tarsometatarsal joint of the hallux (HP:0010213)

........

Contracture of the interphalangeal joint of the hallux (HP:0010214)

........

Contractures of the metatarsophalangeal joint of the hallux (HP:0010215)

Sister Nodes:

Camptodactyly of toe (HP:0001836)

Flexion contracture of 3rd toe (HP:0010333)

Flexion contracture of the 2nd toe (HP:0010327)

Flexion contracture of the 4th toe (HP:0010339)

Flexion contracture of the 5th toe (HP:0010345)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010212	HP:0010212	Flexion contracture of the hallux	0	CL E G H
HP:0010212	HP:0010213	Contracture of the tarsometatarsal joint of the hallux	1	CL E G H
HP:0010212	HP:0010215	Contractures of the metatarsophalangeal joint of the hallux	1	CL E G H
HP:0010212	HP:0010214	Contracture of the interphalangeal joint of the hallux	1	CL E G H

Genes (0) :

Diseases (0) :

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