physical disorder congenital myasthenic syndrome DOID:3635 disease_ontology UMLS_CUI:C0751882 ORDO:590 OMIM:PS601462 GARD:11902 SNOMEDCT_US_2020_03_01:230672006 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). MESH:D020294 Xref MGI. NCI:C84647 neuromuscular junction disease