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:
Muscle spasm (HP:0003394)

Parent Node:
Exercise-induced muscle cramps (HP:0003710)

..Starting node
..Exercise-induced leg cramps (HP:0008991)

Term ID:

8991

Name:

Exercise-induced leg cramps

Synonym:

Definition:

Sudden and involuntary contractions of one or more muscles of the leg brought on by physical exertion.

Comments:

Reference:

HP:0008991

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0008991	HP:0008991	Exercise-induced leg cramps	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040283 - Occasional	12

Genes (1) :HINT1

Diseases (1) :ORPHA:324442

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