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)

Motor stereotypy (HP:0000733)

Myoclonus (HP:0001336)

Paroxysmal dyskinesia (HP:0007166)

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

Tics (HP:0100033)

Tremor (HP:0001337)

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:0011964	HP:0011964	Intermittent painful muscle spasms	0	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent	247
HP:0011964	HP:0011964	Intermittent painful muscle spasms	0	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form	HP:0040283 - Occasional	101
HP:0011964	HP:0011964	Intermittent painful muscle spasms	0	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040282 - Frequent	101
HP:0011964	HP:0011964	Intermittent painful muscle spasms	0	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent	1200
HP:0011964	HP:0011964	Intermittent painful muscle spasms	0	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type	HP:0040281 - Very frequent	18

Genes (4) :CACNA1S CPT2 RYR1 TFG

Diseases (4) :ORPHA:423 ORPHA:228302 ORPHA:228305 ORPHA:90117

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