has material basis in germline mutation in CHAT congenital nervous system disorder myasthenia gravis congenital myasthenic syndrome 6 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/7693 https://rarediseases.info.nih.gov/diseases/9689/congenital-myasthenic-syndrome-with-episodic-apnea https://www.malacards.org/card/myasthenic_syndrome_congenital_6_presynaptic FIM, formerly myasthenia familial infantile MEDGEN:140751 presynaptic congenital myasthenic syndrome 6 congenital myasthenic syndrome with episodic apnea FIMG2 (formerly) myasthenic syndrome, presynaptic, congenital, associated with episodic apnea congenital myasthenic syndrome type 1a MONDO:0009689 myasthenia, familial infantile FIMG2, formerly CMS1A myasthenia gravis, familial infantile, 2 ICD9:358.00 congenital myasthenic syndrome type 6 myasthenia, familial infantile, formerly FIM GARD:0009689 CMS w/episodic apnea CHAT congenital myasthenic syndrome CMS1A2, formerly OMIM:254210 myasthenia gravis, familial infantile, 2, formerly congenital myasthenic syndrome caused by mutation in CHAT myasthenic syndrome congenital associated with episodic apnea UMLS:C0393929 MESH:C535759 Cms Ia2 DOID:0110671 congenital myasthenic syndrome type Ia2, formerly NCIT:C132292 congenital myasthenic syndrome type Ia CMSEA congenital myasthenic syndrome 6 CMS-ea SCTID:230670003 Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner. CMS6 myasthenic syndrome, congenital, 6, presynaptic myasthenic syndrome, congenital, associated with episodic apnea myasthenia gravis familial infantile 2 (formerly) CMS Ia2, formerly NANDO:1201057 congenital myasthenic syndrome presynaptic congenital myasthenic syndrome