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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)
Parent Node: Dystonic Disorders (D020821)
Parent Node: Epilepsy, Rolandic (D019305)
..Starting node ..Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp (C535499)
Child Nodes:
Sister Nodes:
..Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp (C535499)
..Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, Autosomal Dominant (C563392)
..Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked (C564467)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3896

Name:

Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp

Definition:

Alternative IDs:

OMIM:608105

ParentIDs:

MESH:D004421|MESH:D019305|MESH:D020821

TreeNumbers:

C10.228.140.490.360.280/C535499 |C10.228.662.300/C535499 |C10.597.350.300/C535499 |C23.888.592.350.300/C535499

Synonyms:

Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer's Cramp |EPRPDC |RE-PED-WC

Slim Mappings:

Nervous system disease|Signs and symptoms

Reference:

MedGen: C535499
MeSH: C535499
OMIM: 608105;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0007332	Focal hemifacial clonic seizure
4	HP:0000666	Horizontal nystagmus
5	HP:0002268	Paroxysmal dystonia
6	HP:0007104	Prolonged somatosensory evoked potentials
7	HP:0002356	Writer's cramp

Disease Causing ClinVar Variants