Human Phenotype Ontology

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 the 2nd toe (HP:0010319)

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

Parent Node:
Camptodactyly of toe (HP:0001836)

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

..Starting node
..Contracture of the proximal interphalangeal joint of the 2nd toe (HP:0100348)

Term ID:

100348

Name:

Contracture of the proximal interphalangeal joint of the 2nd toe

Synonym:

Camptodactyly of the 2nd toe; Camptodactyly of the second toe

Definition:

The proximal interphalangeal joint of the 2nd toe cannot be straightened actively or passively.

Comments:

Reference:

HP:0100348

Genes and Diseases:

Child Nodes:

Sister Nodes:

Contracture of the distal interphalangeal joint of the 2nd toe (HP:0100352)

Contracture of the metatarsophalangeal joint of the 2nd toe (HP:0100356)

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:0100348	HP:0100348	Contracture of the proximal interphalangeal joint of the 2nd toe	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	101
HP:0100348	HP:0100348	Contracture of the proximal interphalangeal joint of the 2nd toe	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome

Genes (2) :BCOR IPO8

Diseases (2) :OMIM:300166 OMIM:619472

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