Link to this page
Medical Imaging and Diagnostic Ontology
Last uploaded:
April 25, 2022
Jump to:
| Preferred Name | congenital myasthenic syndrome | |
| Synonyms |
|
|
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_3635 |
|
| comment |
Xref MGI.
|
|
| database_cross_reference |
NCI:C84647 GARD:11902 SNOMEDCT_US_2021_09_01:230672006 OMIM:PS601462 ORDO:590 UMLS_CUI:C0751882 MESH:D020294
|
|
| 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). Xref MGI.
|
|
| has_obo_namespace |
disease_ontology
|
|
| has_symptom | ||
| IAO_0000115 |
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).
|
|
| id |
DOID:3635
|
|
| in_subset | ||
| label |
congenital myasthenic syndrome
|
|
| notation |
DOID:3635
|
|
| note |
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.
|
|
| prefLabel |
congenital myasthenic syndrome
|
|
| subClassOf |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping