Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency

Preferred Label : Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency;

NCIt synonyms : CMS11;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the RAPSN gene, encoding 43 kDa receptor-associated protein of the synapse. It is characterized by postsynaptic neuromuscular junction dysfunction resulting in muscle weakness of variable severity.;

Details

Origin ID

C177546;

UMLS CUI

C4225367;

Currated CISMeF NLP mapping
- Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency [OMIM Phenotype]
- congenital myasthenic syndrome 11 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- RAPSN Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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