congenital myasthenic syndrome 18

Summary

DOID:0110683 - congenital myasthenic syndrome 18

Disease Ontology Definition:A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic neuromuscular junction defects, early-onset muscle weakness, easy fatigability, delayed psychomotor development and ataxia that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11.

Synonyms: CMS18,

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

: snap25

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014590 - congenital myasthenic syndrome 18

MONDO:0014590 - congenital myasthenic syndrome 18

Other Model Organisms: AGR, 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)