congenital myasthenic syndrome 3B

Summary

DOID:0110665 - congenital myasthenic syndrome 3B

Disease Ontology Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37.

Synonyms: CMS3B, congenital myasthenic syndrome 3B, 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

: chrnd

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014584 - congenital myasthenic syndrome 3B

MONDO:0014584 - congenital myasthenic syndrome 3B

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)