| 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 |
SNOMEDCT_US_2023_03_01:230672006 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Parent Relationships |
is_a neuromuscular junction disease is_a physical disorder |