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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
:
gfpt1,
alg2,
musk,
snap25,
dpagt1,
agrn,
slc5a7,
slc18a3,
chrna1,
chrne,
syt2,
scn4a,
chat,
chrnd,
rapsn,
| MONDO:0018940 - congenital myasthenic syndrome |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee