Episodic kinesigenic dyskinesia 2

Preferred Label : Episodic kinesigenic dyskinesia 2;

Symbol : EKD2;

CISMeF acronym : DYT19; EKD2;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : DYT19; Dystonia 19;

Description : For a general phenotypic description and a discussion of genetic heterogeneity of episodic kinesigenic dyskinesia (EKD), also referred to as paroxysmal kinesigenic choreoathetosis (PKC), see EKD1 (128200).;

Inheritance : Autosomal dominant;

Prefixed ID : %611031;

Details

Origin ID

611031;

UMLS CUI

C1970238;

Broader ORDO disease(s)
- Paroxysmal kinesigenic dyskinesia [ORDO Disease]
Currated CISMeF NLP mapping
- episodic kinesigenic dyskinesia 2 [DO Concept]
- episodic kinesigenic dyskinesia 2 [MeSH concept]
- episodic kinesigenic dyskinesia 2 [MeSH Supplementary Concept]
DO Cross reference
- episodic kinesigenic dyskinesia 2 [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Chorea [HPO term]
- Dyskinesia [HPO term]
- Dystonia [HPO term]
- Dystonia, episodic [HPO term]
- Involuntary movements [HPO term]
- Paroxysmal dyskinesia [HPO term]
ORDO concept(s)
- Paroxysmal kinesigenic dyskinesia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- episodic kinesigenic dyskinesia 2 [MeSH Supplementary Concept]
- episodic kinesigenic dyskinesia 2 [MeSH concept]
- episodic kinesigenic dyskinesia 2 [DO Concept]
Validated automatic mappings to NTBT
- Paroxysmal kinesigenic dyskinesia [ORDO Disease]

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