congenital myasthenic syndrome 1B

Summary

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 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

: chrna1, chrne, chrnd, chrna1.2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012156 - myasthenic syndrome, congenital, 1B, fast-channel

MONDO:0012156 - myasthenic syndrome, congenital, 1B, fast-channel

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)