Paroxysmal nonkinesigenic dyskinesia 2

Preferred Label : Paroxysmal nonkinesigenic dyskinesia 2;

Symbol : PNKD2;

CISMeF acronym : DYT20; PNKD2;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : DYT20; Dystonia 20;

Description : For a general phenotypic description of paroxysmal nonkinesigenic dyskinesia, see PNKD1 (118800).;

Inheritance : Autosomal dominant;

Prefixed ID : %611147;

Details

Origin ID

611147;

UMLS CUI

C1970149;

Broader ORDO disease(s)
- Paroxysmal non-kinesigenic dyskinesia [ORDO Disease]
Currated CISMeF NLP mapping
- paroxysmal nonkinesigenic dyskinesia 2 [DO Concept]
- paroxysmal nonkinesigenic dyskinesia 2 [MeSH concept]
- paroxysmal nonkinesigenic dyskinesia 2 [MeSH Supplementary Concept]
DO Cross reference
- paroxysmal nonkinesigenic dyskinesia 2 [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Dystonia, episodic [HPO term]
- Incomplete penetrance [HPO term]
- Migraine [HPO term]
- Paroxysmal dystonia [HPO term]
- Seizure [HPO term]
- Variable age at onset [HPO term]
ORDO concept(s)
- Paroxysmal non-kinesigenic dyskinesia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- paroxysmal nonkinesigenic dyskinesia 2 [MeSH Supplementary Concept]
- paroxysmal nonkinesigenic dyskinesia 2 [MeSH concept]
- paroxysmal nonkinesigenic dyskinesia 2 [DO Concept]
Validated automatic mappings to NTBT
- Paroxysmal non-kinesigenic dyskinesia [ORDO Disease]

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