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DOID:0110664 - congenital myasthenic syndrome 3C
Disease Ontology Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37.
Synonyms: congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency,
Xenbase Genes
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| MONDO:0014585 - congenital myasthenic syndrome 3C |
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)