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Disease association ontology term - MONDO:0014543 - congenital myasthenic syndrome 14

Term summary

ID
MONDO:0014543
Name
congenital myasthenic syndrome 14
Ontology or CV name
Disease association
Definition
Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene.

Parents

Annotation

Disease association

MONDO:0014543 - congenital myasthenic syndrome 14

References:

Genes: