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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: Dystonia (D004421)
..Starting node ..Familial paroxysmal dystonia (C537180)
Child Nodes:
Sister Nodes:
..Amyotrophic Dystonic Paraplegia (C566292)
..Dystonia 13, Torsion (C564354)
..Dystonia with Cerebellar Atrophy (C567131)
..Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
..Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp (C535499)
..Familial paroxysmal dystonia (C537180)
..GLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
..LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY (OMIM:613724)
..Leukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient (C566654)
..Marsden syndrome (C536024)
..Mohr-Tranebjaerg syndrome (C535808)
..Torsion dystonia with onset in infancy (C536969)
..Torticollis (D014103) 5
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	4159
Name:	Familial paroxysmal dystonia
Definition:
Alternative IDs:
ParentIDs:	MESH:D004421
TreeNumbers:	C10.597.350.300/C537180 \|C23.888.592.350.300/C537180
Synonyms:	Dystonia, familial paroxysmal \|Paroxysmal kinesigenic choreoathetosis
Slim Mappings:	Nervous system disease\|Signs and symptoms
Reference:	MedGen: C537180 MeSH: C537180 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants