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DOID:0110666 - congenital myasthenic syndrome 3A
Disease Ontology Definition:A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37.
Synonyms: CMS3A, congenital myasthenic syndrome 3A, slow-channel,
Xenbase Genes
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| MONDO:0014583 - congenital myasthenic syndrome 3A |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
congenital myasthenic syndrome (is_a)