ZFIN Human Disease: congenital myasthenic syndrome 3A

OBO ID: DOID:0110666

Term Name:	congenital myasthenic syndrome 3A		Search Ontology:
Synonyms:	CMS3A congenital myasthenic syndrome 3A, slow-channel
Definition:	A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37. (2)
References:	OMIM:616321
Ontology:	Human Disease ( DOID:0110666 )

Relationships

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

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CHRND	chrnd	?Myasthenic syndrome, congenital, 3A, slow-channel	616321

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None