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| Term | congenital myasthenic syndrome | ID (Ontology) | DOID:3635 (Human Disease) |
| 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). | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Is a |
physical disorder neuromuscular junction disease |
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External Crossreferences & Linkouts
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GARD:11902 MESH:D020294 MIM:PS601462 NCI:C84647 ORDO:590 SNOMEDCT_US_2023_03_01:230672006 UMLS_CUI:C0751882 |
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