congenital myasthenic syndrome 16 Disease Ontology Browser

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Disease Ontology Browser

congenital myasthenic syndrome 16 (DOID:0110682)
Alliance: disease page
Synonyms: CMS16; congenital myasthenic syndrome acetazolamide-responsive
Alt IDs: OMIM:614198
Definition: A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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