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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)
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12/10/2024
MGI 6.24 		The Jackson Laboratory