congenital myasthenic syndrome 4A

Summary

DOID:0110678 - congenital myasthenic syndrome 4A

Disease Ontology Definition:A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.

Synonyms: CMS1A1, CMS4A, CMS Ia1, congenital myasthenic syndrome 4A slow-channel, congenital myasthenic syndrometype Ia1

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: chrne

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011600 - congenital myasthenic syndrome 4A

MONDO:0011600 - congenital myasthenic syndrome 4A

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), autosomal recessive disease (is_a), congenital myasthenic syndrome (is_a)