Search Ontology:
Human Disease

isolated elevated serum creatine phosphokinase levels

Term ID
DOID:0111338
Synonyms
  • 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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models