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congenital myasthenic syndrome 1A

Go to external page http://purl.obolibrary.org/obo/DOID_0110663


A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

congenital myasthenic syndrome 1A

Synonyms
  • CMS IIa
  • CMS1A
  • congenital myasthenic syndrome 1A, slow-channel
  • congenital myasthenic syndrome type IIa
database cross reference
has obo namespace

disease_ontology

id

DOID:0110663