Dystonia 24 - CISMeF

Preferred Label : Dystonia 24;

Symbol : DYT24;

CISMeF acronym : DYT24;

Type : Phenotype, molecular basis known;

Description : Dystonia-24 is an autosomal dominant form of focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs (summary by Charlesworth et al., 2012).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the anoctamin 3 gene (ANO3, 610110.0001);

Prefixed ID : #615034;

Details

Origin ID

615034;

UMLS CUI

C3554374;

Automatic exact mappings (from CISMeF team)
- ANO3 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Cranio-cervical dystonia with laryngeal and upper limb involvement (disorder) [SNOMED CT concept]
- Cranio-cervical dystonia with laryngeal and upper-limb involvement [ORDO Disease]
- dystonia 24 [DO Concept]
DO Cross reference
- dystonia 24 [DO Concept]
Genes related to phenotype
- Anoctamin 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Blepharospasm [HPO term]
- Head tremor [HPO term]
- Incomplete penetrance [HPO term]
- Oromandibular dystonia [HPO term]
- Torticollis [HPO term]
ORDO concept(s)
- Cervical dystonia [ORDO Disease]
- Cranio-cervical dystonia with laryngeal and upper-limb involvement [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cranio-cervical dystonia with laryngeal and upper limb involvement (disorder) [SNOMED CT concept]
- dystonia 24 [DO Concept]

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