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Disease Ontology Browser
congenital myasthenic syndrome 2C (DOID:0110680)
Alliance: disease page
Synonyms: CMS2C; congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency
Alt IDs: OMIM:616314
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 ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
01/31/2023
MGI 6.22
The Jackson Laboratory