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congenital myasthenic syndrome

Disease Summary
Associated Targets (34)
Tbio

21

Tclin

7

Tchem

6


Explore Associated Targets
Mondo Description Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.
Disease Ontology Description A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).
Mondo Term and Equivalent IDs
MONDO:0018940:  congenital myasthenic syndrome
GARD:0000098: 
GARD:0011902: 
MESH:D020294: 
NCIT:C84647: 
OMIMPS:601462: 
Orphanet:590: 
SCTID:230672006: 
UMLS:C0751882: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)