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Congenital Myasthenic Syndrome 14 (MONDO:0014543)

Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene.

Overview

Category

Ontology ID

Internal:15542

Synonyms

ALG2 congenital myasthenic syndromes with glycosylation defect

CMS14

CMSTA3

congenital myasthenic syndrome 14

congenital myasthenic syndrome type 14

congenital myasthenic syndromes with glycosylation defect caused by mutation in ALG2

myasthenic syndrome, congenital, 14, with tubular aggregates

myasthenic syndrome, congenital, type 14

myasthenic syndrome, congenital, 14

myasthenic syndrome, congenital, with tubular aggregates 3

Mapped terms

DOID:0110669

GARD:0018454

MEDGEN:864034

OMIM:616228

UMLS:C4015597

Child terms

Unknown children.