ZFIN Human Disease: congenital myasthenic syndrome 3B

OBO ID: DOID:0110665

Term Name:	congenital myasthenic syndrome 3B		Search Ontology:
Synonyms:	CMS3B congenital myasthenic syndrome 3B, fast-channel
Definition:	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37. (2)
References:	OMIM:616322
Ontology:	Human Disease ( DOID:0110665 )

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 3B PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CHRND	chrnd	Myasthenic syndrome, congenital, 3B, fast-channel	616322

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None