About   Help   FAQ
Disease Ontology Browser
congenital myasthenic syndrome 3C (DOID:0110664)
Alliance: disease page
Synonyms: congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency
Alt IDs: OMIM:616323
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.


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)
Citing These Resources
Funding Information
Warranty Disclaimer, Copyright, and Privacy Statement
Send questions and comments to User Support.
last database update
01/17/2023
MGI 6.22
The Jackson Laboratory