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Biomedical Informatics Research Network Project Lexicon
Last uploaded:
March 24, 2008
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| Preferred Name | Congenital Myasthenic Syndrome | |
| Synonyms |
Congenital Myasthenia Gravis |
|
| ID |
http://bioontology.org/projects/ontologies/birnlex#birnlex_12597 |
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| abbrev | ||
| class_or_indiv |
true
|
|
| 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 (MeSH).
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|
| external_id_urls |
http://www.nlm.nih.gov/cgi/mesh/2008/MB_cgi?field=uid&term=D020294 |
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| external_ids |
meshUID:D020294
|
|
| label |
Congenital Myasthenic Syndrome
|
|
| mod_date |
2007-10-05
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|
| preferred_label |
Congenital Myasthenic Syndrome
|
|
| prefixIRI |
birnlex_12597
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|
| prefLabel |
Congenital Myasthenic Syndrome
|
|
| retired |
false
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|
| synonyms |
Congenital Myasthenia Gravis
|
|
| subClassOf |
http://bioontology.org/projects/ontologies/birnlex#birnlex_12590 |
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