ZFIN Human Disease: congenital myasthenic syndrome 1B

OBO ID: DOID:0110662

Term Name:	congenital myasthenic syndrome 1B		Search Ontology:
Synonyms:	CMS1B congenital myasthenic syndrome 1B, fast-channel
Definition:	A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. (3)
References:	OMIM:608930
Ontology:	Human Disease ( DOID:0110662 )

Relationships

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

OTHER congenital myasthenic syndrome 1B PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CHRNA1	chrna1	Myasthenic syndrome, congenital, 1B, fast-channel	608930

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None