About   Help   FAQ
Disease Ontology Browser
isolated elevated serum creatine phosphokinase levels (DOID:0111338)
Alliance: disease page
Synonyms: elevated serum CPK; idiopathic hyperCKemia; isolated hyperCKemia
Alt IDs: OMIM:123320
Definition: An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has_material_basis_in in some cases in heterozygous mutation in the CAV3 gene on chromosome 3p25.3.


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
03/19/2024
MGI 6.23
The Jackson Laboratory