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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

OMIM:123320

Synonyms

elevated serum CPK [EXACT]

idiopathic hyperCKemia [EXACT]

isolated hyperCKemia [EXACT]

Parent Relationships

is_a inherited metabolic disorder

is_a autosomal dominant disease

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