congenital myasthenic syndrome 1A

Summary

DOID:0110663 - congenital myasthenic syndrome 1A

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

Synonyms: CMS1A, CMS2A, CMS IIa, congenital myasthenic syndrome 1A, slow-channel, congenital myasthenic syndrome type IIa

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, chrnb1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011088 - ligament of knee joint

MONDO:0011088 - ligament of knee joint

MIM:

MIM:601462 - MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL; CMS1A

MIM:601462 - MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL; CMS1A

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)