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:
Abnormal foot morphology (HP:0001760)

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

Parent Node:
Foot joint contracture (HP:0008366)

..Starting node
..Plantar flexion contractures (HP:0008112)

Term ID:

8112

Name:

Plantar flexion contractures

Synonym:

Definition:

Comments:

Reference:

HP:0008112

Genes and Diseases:

Child Nodes:

Sister Nodes:

Achilles tendon contracture (HP:0001771)

Flexion contracture of toe (HP:0005830)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008112	HP:0008112	Plantar flexion contractures	0	REEP1 CL E G H	65055	25786	OMIM:620011	87

Genes (1) :REEP1

Diseases (1) :OMIM:620011

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