Search Ontology:
Human Disease

congenital myasthenic syndrome 5

Term ID
DOID:0110667
Synonyms
  • CMS Ic
  • CMS5
  • congenital myasthenic syndrome Engel type
  • congenital myasthenic syndrome type Ic
  • EAD
  • end plate acetylcholinesterase deficiency
  • Engel congenital myasthenic syndrome
Definition
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has_material_basis_in homozygous or compound heterozygous mutation in the COLQ gene on chromosome 3p25. https://www.ncbi.nlm.nih.gov/pubmed/25792100
References
Ontology
Human Disease   ( DOID:0110667 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models