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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: Dyskinesias (D020820)
..Starting node ..Episodic Kinesigenic Dyskinesia 2 (C567026)
Child Nodes:
Sister Nodes:
..Ataxia (D001259) 126
..Athetosis (D001264) 3
..Bobble-head doll syndrome (C536241)
..Catalepsy (D002375)
..Chorea (D002819) 17
..Choreoathetosis/Spasticity, Episodic (C563401)
..Dyskinesia, Drug-Induced (D004409)
..Dyskinesia, Familial, with Facial Myokymia (C564676)
..Dystonia (D004421) 18
..Episodic Kinesigenic Dyskinesia 2 (C567026)
..Hyperkinesis (D006948)
..Hypokinesia (D018476) 1
..Infantile convulsions and paroxysmal choreoathetosis, familial (C535522)
..Mental Retardation, X-Linked, Syndromic 10 (C564560)
..Microcephaly pontocerebellar hypoplasia dyskinesia (C537543)
..MIRROR MOVEMENTS 1 (OMIM:157600)
..Myoclonus (D009207) 10
..Paroxysmal Exertion-Induced Dyskinesia And Hemolytic Anemia (C567412)
..Psychomotor Agitation (D011595) 1
..Synkinesis (D046608) 2
..Tics (D020323)
..Tremor (D014202) 6
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3932

Name:

Episodic Kinesigenic Dyskinesia 2

Definition:

Alternative IDs:

OMIM:611031

ParentIDs:

MESH:D020820

TreeNumbers:

C10.228.662.262/C567026 |C10.597.350/C567026 |C23.888.592.350/C567026

Synonyms:

Dystonia 19 |DYT19 |EKD2

Slim Mappings:

Nervous system disease|Signs and symptoms

Reference:

MedGen: C567026
MeSH: C567026
OMIM: 611031;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002072	Chorea
3	HP:0100660	Dyskinesia
4	HP:0001332	Dystonia
5	HP:0007166	Paroxysmal dyskinesia

Disease Causing ClinVar Variants