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Mondo Disease Ontology
| Preferred Name | congenital myasthenic syndrome | |
| Synonyms |
congenital myasthenia myasthenia gravis congenital familial limb-girdle myasthenia erb-Goldflam syndrome myasthenia gravis pseudoparalytica congenital MG Congenital Myasthenic Syndromes 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 |
|
| database_cross_reference |
NANDO:1200021 ICD9:358.00 GARD:11902 NORD:1893 ICD9:V17.89 icd11.foundation:1515367530 DOID:3635 SCTID:230672006 UMLS:C0751882 OMIMPS:601462 MEDGEN:155650 NCIT:C84647 MESH:D020294 Orphanet:590
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|
| definition |
Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.
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|
| has_exact_synonym |
Congenital Myasthenic Syndromes CMS myasthenic syndrome, congenital
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|
| has_related_synonym |
congenital myasthenia myasthenia gravis congenital familial limb-girdle myasthenia erb-Goldflam syndrome myasthenia gravis pseudoparalytica congenital MG
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|
| IAO_0000233 | ||
| id |
MONDO:0018940
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder |
|
| label |
congenital myasthenic syndrome
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|
| notation |
MONDO:0018940
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|
| prefLabel |
congenital myasthenic syndrome
|
|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/11902/congenital-myasthenic-syndrome |
|
| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
|
| skos_exactMatch |
http://identifiers.org/snomedct/230672006 http://purl.obolibrary.org/obo/Orphanet_590 http://purl.obolibrary.org/obo/NCIT_C84647 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1515367530 http://linkedlifedata.com/resource/umls/id/C0751882 http://identifiers.org/medgen/155650 http://identifiers.org/mesh/D020294 |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0020124 |
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| excluded subClassOf | ||
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0020124 |
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