Search Ontology:
Human Disease
isolated elevated serum creatine phosphokinase levels
- Term ID
- DOID:0111338
- Synonyms
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- elevated serum CPK
- idiopathic hyperCKemia
- isolated hyperCKemia
- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0111338 )
- is a type of
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Genes Involved
Zebrafish Models