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Disease Ontology Browser
congenital myasthenic syndrome 11 (DOID:0110675)
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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)
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12/10/2024
MGI 6.24 		The Jackson Laboratory