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Metadata
ID DOID:3635
Name congenital myasthenic syndrome
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).
http://en.wikipedia.org/wiki/Congenital_myasthenic_syndrome, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=590
Xrefs

GARD:11902

MESH:D020294

NCI:C84647

OMIM:PS601462

ORDO:590

SNOMEDCT_US_2019_09_01:230672006

UMLS_CUI:C0751882

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DO_rare_slim

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is_a neuromuscular junction disease

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