congenital myasthenic syndrome 13

Summary

DOID:0110676 - congenital myasthenic syndrome 13

Disease Ontology Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23.

Synonyms: CMS13, CMSTA2, congenital myasthenic syndrome 13 with tubular aggregates, congenital myasthenic syndrome with tubular aggregates 2

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

: dpagt1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013883 - congenital myasthenic syndrome 13

MONDO:0013883 - congenital myasthenic syndrome 13

MIM:

MIM:614750 - MYASTHENIC SYNDROME, CONGENITAL, 13; CMS13

MIM:614750 - MYASTHENIC SYNDROME, CONGENITAL, 13; CMS13

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)