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DO Term : congenital myasthenic syndrome 16 [DOID:0110682] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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

synonyms:
congenital myasthenic syndrome acetazolamide-responsive,
CMS16,
OMIM:614198,
614198

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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