congenital myasthenic syndrome 4C

Summary

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: CMS1D, CMS4C, CMS Id, congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency, congenital myasthenic syndrome type Id, familial infantile myasthenia 1, FIM1

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: gfpt1, musk, chrne, rapsn, chrnb1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012157 - congenital myasthenic syndrome 4C

MONDO:0012157 - congenital myasthenic syndrome 4C

MIM:

MIM:608931 - MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C

MIM:608931 - MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), congenital myasthenic syndrome (is_a)