Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
DOID:0110662 - congenital myasthenic syndrome 1B


Disease Ontology Definition:A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q.

Synonyms: CMS1B, congenital myasthenic syndrome 1B, fast-channel

Xenbase Genes : chrna1, chrne, chrnd, chrna1.2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012156 - myasthenic syndrome, congenital, 1B, fast-channel

OMIM:
OMIM:608930 - MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL; CMS1B

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): congenital myasthenic syndrome (is_a)