congenital myasthenic syndrome 16
congenital myasthenic syndrome that has material basis in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23
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congenital myasthenic syndrome 16
Summary
congenital myasthenic syndrome 16 is a rare disease[1].
Key Facts
- congenital myasthenic syndrome 16's instance of is recorded as rare disease[2].
- congenital myasthenic syndrome 16's instance of is recorded as class of disease[3].
- congenital myasthenic syndrome 16 is a type of congenital myasthenic syndrome[4].
- congenital myasthenic syndrome 16 is a type of genetic disease[5].
- congenital myasthenic syndrome 16 is a type of autosomal recessive disease[6].
- congenital myasthenic syndrome 16's genetic association is recorded as SCN4A[7].
- congenital myasthenic syndrome 16's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110682[8].
- congenital myasthenic syndrome 16's exact match is recorded as http://identifiers.org/doid/DOID:0110682[9].
- congenital myasthenic syndrome 16's on focus list of Wikimedia project is recorded as WikiProject Medicine[10].