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 ]

This is just here as a test because I lose it

Term information

database cross reference
  • NCIT:C84647 (MONDO:equivalentTo)
  • SCTID:230672006 (MONDO:equivalentTo)
  • GARD:0000098 (MONDO:equivalentTo)
  • GARD:0011902 (MONDO:equivalentTo)
  • ICD9:358.00 (i2s)
  • Orphanet:590 (MONDO:equivalentTo)
  • ICD9:V17.89 (i2s)
  • UMLS:C0751882 (Orphanet:590)
  • OMIMPS:601462 (MONDO:equivalentTo)
  • ICD10:G70.2 (Orphanet:590)
  • DOID:3635 (MONDO:equivalentTo)
  • MESH:D020294 (Orphanet:590)
Subsets

gard_rare, ordo_disease

abbreviation
CMS [ Orphanet:590 ]

definition

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

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

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

excluded subClassOf

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

has exact synonym

familial limb-girdle myasthenia

CMS

myasthenic syndrome, congenital

has related synonym

congenital 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

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml