congenital myasthenic syndrome 5

Summary

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: CMS5, CMS Ic, congenital myasthenic syndrome Engel type, congenital myasthenic syndrome type Ic, EAD, end plate acetylcholinesterase deficiency, Engel congenital myasthenic syndrome

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: colq

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011281 - nail of pedal digit 4

MONDO:0011281 - nail of pedal digit 4

MIM:

MIM:603034 - MYASTHENIC SYNDROME, CONGENITAL, 5; CMS5

MIM:603034 - MYASTHENIC SYNDROME, CONGENITAL, 5; CMS5

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), congenital myasthenic syndrome (is_a)