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| Term | isolated elevated serum creatine phosphokinase levels | ID (Ontology) | DOID:0111338 (Human Disease) |
| 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. | ||
| Also Known As | "elevated serum CPK" ; "idiopathic hyperCKemia" ; "isolated hyperCKemia" | ||
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disease of metabolism |__inherited metabolic disorder__ autosomal genetic disease | |__autosomal dominant disease____| genetic disease | |__inherited metabolic disorder__| isolated elevated serum creatine phosphokinase levels |
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autosomal dominant disease inherited metabolic disorder |
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| MIM:123320 | |||