Search Ontology:
Human Disease

congenital myasthenic syndrome 17

Term ID
DOID:0110674
Synonyms
  • CMS17
Definition
A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11. https://www.ncbi.nlm.nih.gov/pubmed/24234652
References
Ontology
Human Disease   ( DOID:0110674 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models