Dyskinesia with orofacial involvement, autosomal dominant

Preferred Label : Dyskinesia with orofacial involvement, autosomal dominant;

Symbol : DSKOD;

CISMeF acronym : FDFM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dyskinesia, familial, with facial myokymia; FDFM;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the adenylate cyclase 5 gene (ADCY5, 600293.0001);

Prefixed ID : #606703;

Détails

Origin ID

606703;

UMLS CUI

C5551343;

Currated CISMeF NLP mapping
- Familial dyskinesia and facial myokymia [ORDO Disease]
- Familial dyskinesia and facial myokymia (disorder) [SNOMED CT concept]
- dyskinesia, familial, with facial myokymia [MeSH concept]
- dyskinesia, familial, with facial myokymia [MeSH Supplementary Concept]
Genes related to phenotype
- Adenylate cyclase 5 [OMIM gene]
HPO term(s)
- Anxiety [HPO term]
- Autosomal dominant inheritance [HPO term]
- Chorea [HPO term]
- Congestive heart failure [HPO term]
- Dilated cardiomyopathy [HPO term]
- Dysarthria [HPO term]
- Dyskinesia [HPO term]
- Dystonia [HPO term]
- Facial myokymia [HPO term]
- Hyperreflexia [HPO term]
- Juvenile onset [HPO term]
- Limb hypertonia [HPO term]
- Motor delay [HPO term]
- Resting tremor [HPO term]
ORDO concept(s)
- Familial dyskinesia and facial myokymia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial dyskinesia and facial myokymia [ORDO Disease]
- Familial dyskinesia and facial myokymia (disorder) [SNOMED CT concept]
- dyskinesia, familial, with facial myokymia [MeSH Supplementary Concept]
- dyskinesia, familial, with facial myokymia [MeSH concept]

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