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:
Limb joint contracture (HP:0003121)

Parent Node:
Congenital contracture (HP:0002803)

Parent Node:
Lower-limb joint contracture (HP:0005750)

..Starting node
..Congenital foot contractures (HP:0005745)

Term ID:

5745

Name:

Congenital foot contractures

Synonym:

Definition:

Comments:

Reference:

HP:0005745

Genes and Diseases:

Child Nodes:

Sister Nodes:

Adductor longus contractures (HP:0006366)

Ankle flexion contracture (HP:0006466)

Foot joint contracture (HP:0008366)

Hamstring contractures (HP:0003089)

Hip contracture (HP:0003273)

Knee flexion contracture (HP:0006380)

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:0005745	HP:0005745	Congenital foot contractures	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional	43
HP:0005745	HP:0005745	Congenital foot contractures	0	ZC4H2 CL E G H	55906	24931	ORPHA:3454	Intellectual disability-developmental delay-contractures syndrome	HP:0040281 - Very frequent	19
HP:0005745	HP:0005745	Congenital foot contractures	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.	19

Genes (2) :GFM2 ZC4H2

Diseases (3) :ORPHA:565624 ORPHA:3454 OMIM:314580

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