About   Help   FAQ
Disease Ontology Browser
congenital myasthenic syndrome 5 (DOID:0110667)
Alliance: disease page
Synonyms: CMS5; CMS Ic; congenital myasthenic syndrome Engel type; congenital myasthenic syndrome type Ic; EAD; end plate acetylcholinesterase deficiency; Engel congenital myasthenic syndrome
Alt IDs: OMIM:603034
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.

Disease References using Mouse Models (2)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory