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DOID:0110679 - congenital myasthenic syndrome 4C
Disease Ontology Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.
Synonyms: CMS Id, CMS1D, CMS4C, FIM1, congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency, congenital myasthenic syndrome type Id, familial infantile myasthenia 1,
Echinobase Genes :
MIM:608931 - myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency |
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)