Link to this page
Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
Jump to:
| Preferred Name | congenital myasthenic syndrome | |
| Synonyms |
congenital myasthenia myasthenia gravis congenital familial limb-girdle myasthenia erb-Goldflam syndrome myasthenia gravis pseudoparalytica congenital MG CMS myasthenic syndrome, congenital |
|
| Definitions |
Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0018940 |
|
| altLabel |
congenital myasthenia myasthenia gravis congenital familial limb-girdle myasthenia erb-Goldflam syndrome myasthenia gravis pseudoparalytica congenital MG CMS myasthenic syndrome, congenital
|
|
| definition |
Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.
|
|
| has_exact_synonym |
CMS myasthenic syndrome, congenital
|
|
| has_related_synonym |
congenital myasthenia myasthenia gravis congenital familial limb-girdle myasthenia erb-Goldflam syndrome myasthenia gravis pseudoparalytica congenital MG
|
|
| label |
congenital myasthenic syndrome
|
|
| prefixIRI |
MONDO:0018940
|
|
| prefLabel |
congenital myasthenic syndrome
|
|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/11902/congenital-myasthenic-syndrome |
|
| textual definition |
Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.
|
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0020124 http://purl.obolibrary.org/obo/MONDO_0020158 |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping