ZFIN Human Disease: congenital myasthenic syndrome 3C

OBO ID: DOID:0110664

Term Name:	congenital myasthenic syndrome 3C		Search Ontology:
Synonyms:	congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency
Definition:	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37. https://www.ncbi.nlm.nih.gov/pubmed/16916845
References:	OMIM:616323
Ontology:	Human Disease ( DOID:0110664 )

Relationships

is a type of:	autosomal recessive disease congenital myasthenic syndrome autosomal recessive 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, 3C, associated with acetylcholine receptor deficiency	616323

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None