congenital myasthenic syndrome 12

Summary

DOID:0110660 - congenital myasthenic syndrome 12

Disease Ontology Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13.

Synonyms: CMS12, congenital myasthenia 12 with tubular aggregates

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

: gfpt1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012518 - congenital myasthenic syndrome 12

MONDO:0012518 - congenital myasthenic syndrome 12

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)