Search Ontology:
Human Disease

congenital myasthenic syndrome 16

Term ID
DOID:0110682
Synonyms
  • CMS16
  • congenital myasthenic syndrome acetazolamide-responsive
Definition
A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23. https://www.ncbi.nlm.nih.gov/pubmed/12766226
References
Ontology
Human Disease   ( DOID:0110682 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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