Dystonia 11, Myoclonic

Preferred Label : Dystonia 11, Myoclonic;

NCIt synonyms : Myoclonic Dystonia 11; MDS; DYT11; Myoclonus-Dystonia Syndrome;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the SGCE gene, encoding epsilon-sarcoglycan. It is characterized by myoclonus of the proximal muscles and dystonia.;

Details

Origin ID

C201596;

UMLS CUI

C1834570;

Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dystonia 11, myoclonic [OMIM Phenotype]
- Myoclonic dystonia [MeSH concept]
- Myoclonic dystonia [MedDRA Preferred Term]
- Myoclonic dystonia (disorder) [SNOMED CT concept]
- Myoclonus-dystonia syndrome [ORDO Disease]
- myoclonic dystonia [MeSH Supplementary Concept]
- myoclonus dystonia syndrome [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- SGCE Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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