ZFIN Human Disease: congenital myasthenic syndrome 16

OBO ID: DOID:0110682

Term Name:	congenital myasthenic syndrome 16		Search Ontology:
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:	OMIM:614198
Ontology:	Human Disease ( DOID:0110682 )

Relationships

is a type of:	autosomal recessive disease congenital myasthenic syndrome autosomal recessive disease congenital myasthenic syndrome Show first 5 Terms

OTHER congenital myasthenic syndrome 16 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SCN4A	scn4ab scn4aa	Myasthenic syndrome, congenital, 16	614198

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None