About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.17
The Jackson Laboratory