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 movement (HP:0100022)

Parent Node:
Involuntary movements (HP:0004305)

..Starting node
..Intermittent painful muscle spasms (HP:0011964)

Term ID:

11964

Name:

Intermittent painful muscle spasms

Synonym:

Definition:

History of repeated intermittent involuntary muscle contractions that were painful.

Comments:

Reference:

HP:0011964

Genes and Diseases:

Child Nodes:

Sister Nodes:

Athetosis (HP:0002305)

Chorea (HP:0002072)

Clonus (HP:0002169)

Fasciculations (HP:0002380)

Hemiballismus (HP:0100248)

Myoclonus (HP:0001336)

Paroxysmal dyskinesia (HP:0007166)

Self-mutilation of tongue and lips due to involuntary movements (HP:0008767)

Stereotypy (HP:0000733)

Tics (HP:0100033)

Tremor (HP:0001337)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0011964	HP:0011964	Intermittent painful muscle spasms	0	CACNA1S CL E G H	779	423	ORPHA	1	1886	1397	114208
HP:0011964	HP:0011964	Intermittent painful muscle spasms	0	RYR1 CL E G H	6261	423	ORPHA	1	6164	10483	180901
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (2) :CACNA1S RYR1

Diseases (1) :423

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.