ZFIN Human Disease: congenital myasthenic syndrome 11

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 Acetylcholine Receptor (AChR) at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11. (2)
References:	OMIM:616326
Ontology:	Human Disease ( DOID:0110675 )

Relationships

is a type of:	autosomal recessive disease congenital myasthenic syndrome autosomal recessive disease congenital myasthenic syndrome Show first 5 Terms

OTHER congenital myasthenic syndrome 11 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
RAPSN	rapsn	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	616326

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None