Dystonia 25 - CISMeF

Preferred Label : Dystonia 25;

Symbol : DYT25;

CISMeF acronym : DYT25;

Type : Phenotype, molecular basis known;

Description : Dystonia-25 is an autosomal dominant neurologic disorder characterized by adult onset of focal dystonia, usually involving the neck. The dystonia most often progresses to involve other regions, particularly the face and laryngeal muscles, and less commonly the trunk and limbs (summary by Fuchs et al., 2013).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the guanine nucleotide-binding protein, alpha-activating activity polypeptide, olfactory type gene (GNAL, 139312.0001);

Prefixed ID : #615073;

Détails

Origin ID

615073;

UMLS CUI

C4304670;

Currated CISMeF NLP mapping
- Autosomal dominant focal dystonia DYT25 type (disorder) [SNOMED CT concept]
- Autosomal dominant focal dystonia, DYT25 type [ORDO Disease]
- dystonia 25 [DO Concept]
DO Cross reference
- dystonia 25 [DO Concept]
Genes related to phenotype
- Guanine nucleotide-binding protein, alpha-activating activity polypeptide, olfactory type [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Dysphonia [HPO term]
- Laryngeal dystonia [HPO term]
- Limb dystonia [HPO term]
- Lingual dystonia [HPO term]
- Torticollis [HPO term]
ORDO concept(s)
- Autosomal dominant focal dystonia, DYT25 type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant focal dystonia DYT25 type (disorder) [SNOMED CT concept]
- Autosomal dominant focal dystonia, DYT25 type [ORDO Disease]
- dystonia 25 [DO Concept]

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