congenital myasthenic syndrome 4B

Summary

DOID:0110677 - congenital myasthenic syndrome 4B

Disease Ontology Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.

Synonyms: CMS4B, congenital myasthenic syndrome 4B 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

: chrne

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014586 - congenital myasthenic syndrome 4B

MONDO:0014586 - congenital myasthenic syndrome 4B

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)