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DOID:0110662 - congenital myasthenic syndrome 1B
Disease Ontology Definition:A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q.
Synonyms: CMS1B, congenital myasthenic syndrome 1B, fast-channel,
Xenbase Genes
![Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries](img/icons/info1.png)
MONDO:0012156 - myasthenic syndrome, congenital, 1B, fast-channel |
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)