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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
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| Preferred Name | Myasthenic Syndromes, Congenital [Disease/Finding] | |
| Synonyms |
Myasthenic Syndromes, Congenital Congenital Myasthenic Syndromes Congenital Myasthenic Syndrome Congenital Myasthenia Myasthenia Gravis, Congenital Congenital Myasthenia Gravis |
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| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000004099 |
|
| altLabel |
Myasthenic Syndromes, Congenital Congenital Myasthenic Syndromes Congenital Myasthenic Syndrome Congenital Myasthenia Myasthenia Gravis, Congenital Congenital Myasthenia Gravis
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|
| cui |
C0751882
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| MESH DEFINITION |
A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)
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| MESH DUI |
D020294
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|
| MeSH name |
Myasthenic Syndromes, Congenital
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|
| MESH UI |
M0328231
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|
| NDFRT kind |
DISEASE_KIND
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|
| notation |
N0000004099
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|
| NUI |
N0000004099
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|
| prefLabel |
Myasthenic Syndromes, Congenital [Disease/Finding]
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|
| tui |
T047
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| subClassOf |
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