congenital myasthenic syndrome 2A

Summary

DOID:0110681 - congenital myasthenic syndrome 2A

Disease Ontology Definition:A congenital myasthenic syndrome characterized by autosomal dominant inheritance of 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 mutation in the CHRNB1 gene on chromosome 17p13.

Synonyms: CMS2A, congenital myasthenic syndrome 2A slow-channel

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

: chrnb1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014581 - congenital myasthenic syndrome 2A

MONDO:0014581 - congenital myasthenic syndrome 2A

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), congenital myasthenic syndrome (is_a)