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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: Chorea (D002819)
..Starting node ..Paroxysmal Nonkinesigenic Dyskinesia 2 (C567001)
Child Nodes:
Sister Nodes:
..Chorea Gravidarum (D020150)
..Chorea, Benign Familial (C565851)
..Chorea, remitting with nystagmus and cataracts (C535355)
..Choreoathetosis, Familial Inverted (C566127)
..Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress (C567034)
..Costeff optic atrophy syndrome (C535311)
..Episodic Kinesigenic Dyskinesia 1 (C566847)
..Generalized Epilepsy and Paroxysmal Dyskinesia (C563719)
..Huntington Disease (D006816) 3
..Huntington Disease-Like 2 (C564708)
..Neuroacanthocytosis (D054546) 1
..Paroxysmal nonkinesigenic dyskinesia (C537181)
..Paroxysmal Nonkinesigenic Dyskinesia 2 (C567001)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8690

Name:

Paroxysmal Nonkinesigenic Dyskinesia 2

Definition:

Alternative IDs:

OMIM:611147

ParentIDs:

MESH:D002819

TreeNumbers:

C10.228.662.262.249/C567001 |C10.597.350.250/C567001 |C23.888.592.350.250/C567001

Synonyms:

Dystonia 20 |DYT20 |PNKD2

Slim Mappings:

Nervous system disease|Signs and symptoms

Reference:

MedGen: C567001
MeSH: C567001
OMIM: 611147;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003829	Incomplete penetrance
3	HP:0002076	Migraine	HP:0040283
4	HP:0002268	Paroxysmal dystonia
5	HP:0001250	Seizure

Disease Causing ClinVar Variants