congenital myasthenic syndrome 11

Summary

DOID:0110675 - congenital myasthenic syndrome 11

Disease Ontology 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.

Synonyms: CMS11, CMS1E, CMS Ie, congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency, congenital myasthenic syndrome 1e

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: rapsn

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014588 - congenital myasthenic syndrome 11

MONDO:0014588 - congenital myasthenic syndrome 11

MIM:

MIM:616326 - MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11

MIM:616326 - MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), congenital myasthenic syndrome (is_a)