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Drug Target Ontology
Last uploaded:
February 15, 2018
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| Preferred Name | congenital myasthenic syndrome | |
| Synonyms |
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| Definitions |
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). Xref MGI. |
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| ID |
http://purl.obolibrary.org/obo/DOID_3635 |
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| comment |
Xref MGI.
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| 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).
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| hasDbXref |
NCI:C84647 SNOMEDCT_US_2016_03_01:230672006 OMIM:PS601462 ORDO:590 UMLS_CUI:C0751882 MESH:D020294
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| hasExactSynonym |
familial limb-girdle myasthenia
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| hasOBONamespace |
disease_ontology
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| id |
DOID:3635
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| imported from | ||
| inSubset | ||
| label |
congenital myasthenic syndrome
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| prefixIRI |
DOID:3635
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| prefLabel |
congenital myasthenic syndrome
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| subClassOf |
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