OBO ID: DOID:0110675
Term Name: congenital myasthenic syndrome 11 Search Ontology:
Synonyms:
  • CMS Ie
  • CMS11
  • CMS1E
  • congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency
  • congenital myasthenic syndrome 1e
Definition: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of AChR at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11. (2)
References:
Ontology: Human Disease   (DOID:0110675)
OTHER congenital myasthenic syndrome 11 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RAPSN Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 616326
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None