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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 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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last database update
MGI 6.22
The Jackson Laboratory