DO_rare_slim NCIthesaurus has symptom disease has basis in physical disorder congenital myasthenic syndrome DOID:3635 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). disease_ontology UMLS_CUI:C0751882 ORDO:590 GARD:11902 MIM:PS601462 MESH:D020294 SNOMEDCT_US_2025_09_01:230672006 NCI:C84647 Xref MGI. neuromuscular junction disease Abnormality of prenatal development or birth muscle weakness