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BioAssay Ontology
Last uploaded:
January 17, 2025
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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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| has cross-reference |
UMLS_CUI:C0751882 SNOMEDCT_US_2020_03_01:230672006 OMIM:PS601462 MESH:D020294 GARD:11902 NCI:C84647 ORDO:590
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| has_obo_namespace |
disease_ontology
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| id |
DOID:3635
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| imported from | ||
| in_subset | ||
| label |
congenital myasthenic syndrome
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| notation |
DOID:3635
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| prefLabel |
congenital myasthenic syndrome
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| textual 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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| subClassOf |
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