congenital myasthenic syndrome 6
Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner.
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congenital myasthenic syndrome 6
Summary
congenital myasthenic syndrome 6 is a rare disease[1].
Key Facts
- congenital myasthenic syndrome 6's instance of is recorded as rare disease[2].
- congenital myasthenic syndrome 6's instance of is recorded as class of disease[3].
- congenital myasthenic syndrome 6 is a type of congenital myasthenic syndrome[4].
- congenital myasthenic syndrome 6 is a type of genetic disease[5].
- congenital myasthenic syndrome 6 is a type of autosomal recessive disease[6].
- congenital myasthenic syndrome 6's ICD-9-CM is recorded as 358.00[7].
- congenital myasthenic syndrome 6's NCI Thesaurus ID is recorded as C132292[8].
- congenital myasthenic syndrome 6's genetic association is recorded as CHAT[9].
- congenital myasthenic syndrome 6's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110671[10].
- congenital myasthenic syndrome 6's exact match is recorded as http://identifiers.org/doid/DOID:0110671[11].
- congenital myasthenic syndrome 6's on focus list of Wikimedia project is recorded as WikiProject Medicine[12].