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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

Disease Browser
Parent Node: Neuromuscular Manifestations (D020879)
..Starting node ..Myokymia (D020385)
Child Nodes:
........Continuous Muscle Fiber Activity, Hereditary (C563545)
........Dyskinesia, Familial, with Facial Myokymia (C564676)
........Epilepsy, Benign Neonatal, 1, And/Or Myokymia (C567743)
........Episodic Ataxia, Type 1 (C563278)
........Myokymia with neonatal epilepsy (C536099)
Sister Nodes:
..Fasciculation (D005207) 1
..Muscle Cramp (D009120) 3
..Muscle Hypertonia (D009122) 24
..Muscle Hypotonia (D009123) 30
..Muscle Weakness (D018908) 5
..Muscular Atrophy (D009133) 16
..Myokymia (D020385) 5
..Myotonia (D009222) 2
..Spasm (D013035) 8
..Tetany (D013746)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7655
Name:	Myokymia
Definition:	Successive and rapid contractions of motor units associated with chronic nerve injury. The discharges arise from the peripheral aspects of regenerating nerves, and clinically impart a nearly continuous undulation of the body surface overlying the muscle. (Adams et al., Principles of Neurology, 6th ed, p1491)
Alternative IDs:
ParentIDs:	MESH:D020879
TreeNumbers:	C10.597.613.650 \|C23.888.592.608.650
Synonyms:	Chorea, Fibrillary \|Chorea, Morvan \|Chorea, Morvan's \|Chorea, Morvan's Fibrillary \|Choreas, Fibrillary \|Choreas, Morvan \|Choreas, Morvan's \|Fibrillary Chorea \|Fibrillary Chorea, Morvan's \|Fibrillary Choreas \|Generalized Myokymia \|Generalized Myokymias \|Kymatism \|Kyma
Slim Mappings:	Nervous system disease\|Signs and symptoms
Reference:	MedGen: D020385 MeSH: D020385 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants