congenital myasthenic syndrome 16

Summary

DOID:0110682 - congenital myasthenic syndrome 16

Disease Ontology Definition:A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23.

Synonyms: CMS16, congenital myasthenic syndrome acetazolamide-responsive

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: scn4a

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013620 - congenital myasthenic syndrome 16

MONDO:0013620 - congenital myasthenic syndrome 16

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), congenital myasthenic syndrome (is_a)