congenital myasthenic syndrome 7

Summary

DOID:0110659 - congenital myasthenic syndrome 7

Disease Ontology Definition:A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32.

Synonyms: CMS7, congenital myasthenic syndrome 7 presynaptic

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

: syt2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014468 - congenital myasthenic syndrome 7

MONDO:0014468 - congenital myasthenic syndrome 7

Other Model Organisms: Alliance, 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)