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Summary Literature (0)
DOID:0111338 - isolated elevated serum creatine phosphokinase levels

Disease Ontology 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.

Synonyms: elevated serum CPK, idiopathic hyperCKemia, isolated hyperCKemia

Xenbase Genes : cav3, cav3.2



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), inherited metabolic disorder (is_a)