{"orpha":716913,"name":"Congenital myasthenic syndrome associated with ubiquitously expressed proteins","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CMS associated with ubiquitously expressed proteins"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-716913/","orphanet_url":"https://www.orpha.net/en/disease/detail/716913","names":{"fr":{"name":"Syndrome myasthénique congénital associé à des protéines exprimées de manière ubiquitaire"},"de":{"name":"Kongenitales myasthenes Syndrom durch Gendefekt ubiquitär exprimierter Proteine","synonyms":["CMS mit assoziierten Defekten ubiquitär exprimierter Proteine"]},"es":{"name":"Síndrome miasténico congénito asociado a proteínas de expresión ubicua","synonyms":["SMC asociado a proteínas de expresión ubicua"]},"it":{"name":"Sindrome miastenica congenita associata alle proteine espresse ubiquitariamente","synonyms":["SMC associate alle proteine ??espresse ubiquitariamente","CMS associata alle proteine espresse ubiquitariamente"]},"nl":{"name":"Congenitaal myastheen syndroom geassocieerd met alomtegenwoordig tot expressie gebrachte proteïnen","synonyms":["CMS geassocieerd met alomtegenwoordig tot expressie gebrachte proteïnen"]},"pt":{"name":"Ubiquitously expressed proteins associated congenital myasthenic syndromes"},"pl":{"name":"Wrodzone zespoły miasteniczne z białkami o powszechnej ekspresji","synonyms":["CMS associated with ubiquitously expressed proteins"]},"cs":{"name":"Congenital myasthenic syndrome associated with ubiquitously expressed proteins","synonyms":["CMS associated with ubiquitously expressed proteins"]}},"xrefs":[{"source":"OMIM","code":"610542","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614750","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616227","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616228","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618197","qualifier":"BTNT","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":590,"name":"Congenital myasthenic syndrome","classifications":[147,156,181,189]}],"children":[{"orpha":353327,"name":"Congenital myasthenic syndrome with glycosylation defect","type":"Etiological subtype"},{"orpha":716917,"name":"Congenital myasthenic syndrome with mitochondrial defect","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}