About   Help   FAQ
Disease Ontology Browser
congenital myasthenic syndrome 11 (DOID:0110675)
Alliance: disease page
Synonyms: CMS1E; CMS11; CMS Ie; congenital myasthenic syndrome 1e; congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency
Alt IDs: OMIM:616326
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory