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congenital myasthenic syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0018940

Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness. [ Orphanet:590 ]

Synonyms: CMS myasthenic syndrome, congenital

This is just here as a test because I lose it

Term information

database cross reference
  • ICD9:V17.89 (MONDO:relatedTo)
  • NCIT:C84647 (MONDO:equivalentTo)
  • Orphanet:590 (MONDO:equivalentTo)
  • DOID:3635 (MONDO:equivalentTo)
  • OMIMPS:601462 (MONDO:equivalentTo)
  • SCTID:230672006 (MONDO:equivalentTo)
  • UMLS:C0751882 (Orphanet:590/e)
  • MESH:D020294 (Orphanet:590/e)
  • ICD9:358.00 (MONDO:relatedTo)
  • GARD:11902 (Orphanet:590)
  • NORD:1893 (MONDO:NORD)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6744

exactMatch

http://identifiers.org/snomedct/230672006

http://identifiers.org/mesh/D020294

http://purl.obolibrary.org/obo/DOID_3635

http://linkedlifedata.com/resource/umls/id/C0751882

http://purl.obolibrary.org/obo/NCIT_C84647

https://omim.org/phenotypicSeries/PS601462

http://www.orpha.net/ORDO/Orphanet_590

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0020260

has related synonym

congenital myasthenia

familial limb-girdle myasthenia

myasthenia gravis congenital

myasthenia gravis pseudoparalytica

erb-Goldflam syndrome

congenital MG

id

MONDO:0018940

seeAlso

https://rarediseases.info.nih.gov/diseases/11902/congenital-myasthenic-syndrome