congenital myasthenic syndrome 9

Summary

DOID:0110670 - congenital myasthenic syndrome 9

Disease Ontology Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.

Synonyms: CMS9, congenital myasthenic syndrome 9, 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

: musk

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014587 - congenital myasthenic syndrome 9

MONDO:0014587 - congenital myasthenic syndrome 9

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)