|
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: CMS Ie, CMS11, CMS1E, congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency, congenital myasthenic syndrome 1e,
Xenbase Genes : rapsn
MONDO:0014588 - congenital myasthenic syndrome 11 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee