JSON

congenital myasthenic syndrome

^ 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 ]

Term info

database cross reference
  • SCTID:230672006 (MONDO:equivalentTo)
  • OMIMPS:601462 (MONDO:equivalentTo)
  • UMLS:C0751882 (Orphanet:590/e)
  • ICD9:358.00 (MONDO:relatedTo)
  • GARD:0011902 (MONDO:equivalentTo)
  • NCIT:C84647 (MONDO:equivalentTo)
  • GARD:0000098 (MONDO:equivalentTo)
  • ICD9:V17.89 (MONDO:relatedTo)
  • MESH:D020294 (Orphanet:590/e)
  • DOID:3635 (MONDO:equivalentTo)
  • Orphanet:590 (MONDO:equivalentTo)
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, https://omim.org/phenotypicSeries/PS601462, http://purl.obolibrary.org/obo/Orphanet_590

excluded subClassOf

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

has exact synonym

CMS, myasthenic syndrome, congenital

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