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DOID:0110681 - congenital myasthenic syndrome 2A
Disease Ontology Definition:A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13.
Synonyms: CMS2A, congenital myasthenic syndrome 2A slow-channel,
Xenbase Genes
:
chrnb1
| MONDO:0014581 - congenital myasthenic syndrome 2A |
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)