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 4th toe (HP:0010321)

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

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

Term ID:

10339

Name:

Flexion contracture of the 4th toe

Synonym:

Joint contractures of the 4th toe

Definition:

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

Comments:

Reference:

HP:0010339

Genes and Diseases:

Child Nodes:

........

Contracture of the proximal interphalangeal joint of the 4th toe (HP:0100350)

........

Contracture of the distal interphalangeal joint of the 4th toe (HP:0100354)

........

Contracture of the metatarsophalangeal joint of the 4th toe (HP:0100358)

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 5th toe (HP:0010345)

Flexion contracture of the hallux (HP:0010212)

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:0010339	HP:0010339	Flexion contracture of the 4th toe	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040282 - Frequent	101
HP:0010339	HP:0010339	Flexion contracture of the 4th toe	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome		10
HP:0010339	HP:0100358	Contracture of the metatarsophalangeal joint of the 4th toe	1	CL E G H
HP:0010339	HP:0100354	Contracture of the distal interphalangeal joint of the 4th toe	1	CL E G H
HP:0010339	HP:0100350	Contracture of the proximal interphalangeal joint of the 4th toe	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare	10

Genes (2) :BCOR PPP2R5D

Diseases (2) :ORPHA:2712 ORPHA:457279

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