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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Preferred Name | Congenital Myasthenic Syndrome | |
| Synonyms |
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| Definitions |
A group of rare genetic neuromuscular disorders characterized by neuromuscular junction defects. The defects are classified as presynaptic, synaptic, or postsynaptic. Signs and symptoms include muscle weakness, easy fatigability, feeding and respiratory difficulties, and scoliosis. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C84647 |
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| code |
C84647
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| Contributing_Source |
Cellosaurus
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| definition |
A group of rare genetic neuromuscular disorders characterized by neuromuscular junction defects. The defects are classified as presynaptic, synaptic, or postsynaptic. Signs and symptoms include muscle weakness, easy fatigability, feeding and respiratory difficulties, and scoliosis.
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| in_subset | ||
| label |
Congenital Myasthenic Syndrome
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| Preferred_Name |
Congenital Myasthenic Syndrome
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| prefixIRI |
NCIT:C84647
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| prefLabel |
Congenital Myasthenic Syndrome
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| Semantic_Type |
Disease or Syndrome
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| UMLS_CUI |
C2750426
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| subClassOf |
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