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 5th toe (HP:0010322)

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

Parent Node:
Camptodactyly of toe (HP:0001836)

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

..Starting node
..Contractures of the proximal interphalangeal joint of the 5th toe (HP:0100351)

Term ID:

100351

Name:

Contractures of the proximal interphalangeal joint of the 5th toe

Synonym:

Camptodactyly of the 5th toe; Camptodactyly of the fifth toe

Definition:

The proximal interphalangeal joint of the fifth toe cannot be straightened actively or passively.

Comments:

Reference:

HP:0100351

Genes and Diseases:

Child Nodes:

Sister Nodes:

Contracture of the metatarsophalangeal joint of the 5th toe (HP:0100359)

Contractures of the distal interphalangeal joint of the 5th toe (HP:0100355)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100351	HP:0100351	Contractures of the proximal interphalangeal joint of the 5th toe	0	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.