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DOID:0110663 - congenital myasthenic syndrome 1A
Disease Ontology Definition:A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q.
Synonyms: CMS IIa, CMS1A, CMS2A, congenital myasthenic syndrome 1A, slow-channel, congenital myasthenic syndrome type IIa,
Xenbase Genes
:
chrna1,
chrne,
chrnd,
chrna1.2,
chrnb1
| MONDO:0011088 - congenital myasthenic syndrome 1A |
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)