congenital myasthenic syndrome 16 Disease Ontology Browser

Home
Genes
Phenotypes
Human Disease
Expression
Recombinases
Function
Strains / SNPs
Homology
Tumors

About Help FAQ

Search
Download
More Resources
Submit Data
Find Mice (IMSR)
Analysis Tools
Contact Us
Browsers

Disease Ontology Browser

congenital myasthenic syndrome 16 (DOID:0110682)
Alliance: disease page
Synonyms: CMS16; congenital myasthenic syndrome acetazolamide-responsive
Alt IDs: OMIM:614198
Definition: A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23.

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, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24