congenital myasthenic syndrome 2C

Summary

DOID:0110680 - congenital myasthenic syndrome 2C

Disease Ontology Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in compound heterozygous mutation in the CHRNB1 gene on chromosome 17p13.

Synonyms: CMS2C, congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency

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:0014582 - congenital myasthenic syndrome 2C

MONDO:0014582 - congenital myasthenic syndrome 2C

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

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

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