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Disease Ontology Browser
congenital myasthenic syndrome 7 (DOID:0110659)
Alliance: disease page
Synonyms: CMS7; congenital myasthenic syndrome 7 presynaptic
Alt IDs: OMIM:616040
Definition: A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32.

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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11/12/2024
MGI 6.24 		The Jackson Laboratory