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Disease Ontology Browser
congenital myasthenic syndrome 15 (DOID:0110658)
Alliance: disease page
Synonyms: CMS15; congenital myasthenic syndrome 15 without tubular aggregates
Alt IDs: OMIM:616227
Definition: A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the ALG14 gene on chromosome 1p21.


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
02/18/2020
MGI 6.14
The Jackson Laboratory