congenital myasthenic syndrome

Summary

DOID:3635 - congenital myasthenic syndrome

Disease Ontology Definition:A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).

Synonyms: familial limb-girdle myasthenia

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, alg2, musk, snap25, dpagt1, agrn, slc5a7, slc18a3, chrna1, chrne, syt2, scn4a, chat, chrnd, rapsn, [+]

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0018940 - congenital myasthenic syndrome

MONDO:0018940 - congenital myasthenic syndrome

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): neuromuscular junction disease (is_a), physical disorder (is_a)