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Human Disease Ontology
Last uploaded:
December 20, 2024
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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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| database_cross_reference |
UMLS_CUI:C0751882 MESH:D020294 SNOMEDCT_US_2023_03_01:230672006 MIM:PS601462 GARD:11902 NCI:C84647 ORDO:590
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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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| disease has basis in | ||
| has symptom | ||
| has_obo_namespace |
disease_ontology
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| id |
DOID:3635
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| 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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| subClassOf |
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