| Metadata | |
|---|---|
| ID | DOID:0111338 |
| Name | isolated elevated serum creatine phosphokinase levels |
| 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. https://ghr.nlm.nih.gov/condition/isolated-hyperckemia, https://www.ncbi.nlm.nih.gov/pubmed/10746614 |
| Xrefs | |
| Synonyms |
elevated serum CPK [EXACT] idiopathic hyperCKemia [EXACT] isolated hyperCKemia [EXACT] |
| Parent Relationships |