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DOID:0110677 - congenital myasthenic syndrome 4B
Disease Ontology Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.
Synonyms: CMS4B, congenital myasthenic syndrome 4B fast-channel,
Xenbase Genes
:
chrne
| MONDO:0014586 - congenital myasthenic syndrome 4B |
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)