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Disease Ontology Browser
congenital myasthenic syndrome 3A (DOID:0110666)
Alliance: disease page
Synonyms: CMS3A; congenital myasthenic syndrome 3A, slow-channel
Alt IDs: OMIM:616321
Definition: A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37.

Disease References using Mouse Models (1)

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
02/27/2024
MGI 6.23
The Jackson Laboratory