Isolated Elevated Serum Creatine Phosphokinase Levels
Disease ID: disease_node_17532
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| Dbxref | MIM:123320 |
|---|---|
| Subclassof | DOID_0050736, DOID_655 |
| Data Source | DOID |
| Synonyms | elevated serum CPK, idiopathic hyperCKemia, isolated hyperCKemia |
| Doid Label | isolated elevated serum creatine phosphokinase levels |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_17532 |
| Doid Id | DOID_0111338 |
| Label | Isolated Elevated Serum Creatine Phosphokinase Levels |
- Outgoing r'ship
SUBCLASS_OFto/from Metabolism, Inborn Errors(ID:disease_node_5171) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)