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 3rd toe (HP:0010320)

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

Parent Node:
Camptodactyly of toe (HP:0001836)

Parent Node:
Flexion contracture of 3rd toe (HP:0010333)

..Starting node
..Contracture of the proximal interphalangeal joint of the 3rd toe (HP:0100349)

Term ID:

100349

Name:

Contracture of the proximal interphalangeal joint of the 3rd toe

Synonym:

Camptodactyly of the 3rd toe

Definition:

The proximal interphalangeal joint of the 3rd toe cannot be straightened actively or passively.

Comments:

Reference:

HP:0100349

Genes and Diseases:

Child Nodes:

Sister Nodes:

Contracture of the distal interphalangeal joint of the 3rd toe (HP:0100353)

Contracture of the metatarsophalangeal joint of the 3rd toe (HP:0100357)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100349	HP:0100349	Contracture of the proximal interphalangeal joint of the 3rd toe	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	101

Genes (1) :BCOR

Diseases (1) :OMIM:300166

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