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DOID:0110667 - congenital myasthenic syndrome 5
Disease Ontology 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.
Synonyms: CMS Ic, CMS5, EAD, Engel congenital myasthenic syndrome, congenital myasthenic syndrome Engel type, congenital myasthenic syndrome type Ic, end plate acetylcholinesterase deficiency,
Xenbase Genes
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colq
| MONDO:0011281 - congenital myasthenic syndrome 5 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
congenital myasthenic syndrome (is_a)