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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://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=590, http://en.wikipedia.org/wiki/Congenital_myasthenic_syndrome
Xrefs

GARD:11902

MESH:D020294

MIM:PS601462

NCI:C84647

ORDO:590

SNOMEDCT_US_2023_03_01:230672006

UMLS_CUI:C0751882

Subsets

DO_rare_slim

NCIthesaurus

Parent Relationships

is_a neuromuscular junction disease

is_a physical disorder

Subclass Logical Relationships

disease has basis in some Abnormality of prenatal development or birth

has symptom some muscle weakness

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