OBO ID: DOID:0110667
Term Name: congenital myasthenic syndrome 5 Search Ontology:
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)
OTHER congenital myasthenic syndrome 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COLQ Myasthenic syndrome, congenital, 5 603034
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None