Creatine phosphokinase, elevated serum

Preferred Label : Creatine phosphokinase, elevated serum;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cpk, elevated serum; Hyperckemia, idiopathic;

Inheritance : Autosomal dominant;

Prefixed ID : #123320;

Details

Origin ID

123320;

UMLS CUI

C0241005;

Automatic exact mappings (from CISMeF team)
- Creatine phosphokinase serum increased [MedDRA LLT]
- Serum creatine phosphokinase increased [MedDRA LLT]
- isolated elevated serum creatine phosphokinase levels [DO Concept]
Currated CISMeF NLP mapping
- Elevated circulating creatine kinase concentration [HPO term]
DO Cross reference
- isolated elevated serum creatine phosphokinase levels [DO Concept]
Genes related to phenotype
- Caveolin 3 [OMIM gene]
HPO term(s)
- Abnormal muscle fiber morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- EMG: myopathic abnormalities [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Exercise-induced muscle cramps [HPO term]
- Fatigue [HPO term]
- Increased muscle fatiguability [HPO term]
- Inflammatory myopathy [HPO term]
- Mitochondrial myopathy [HPO term]
- Muscle spasm [HPO term]
- Muscular dystrophy [HPO term]
- Myalgia [HPO term]
- Myopathy [HPO term]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Creatine phosphokinase serum increased [MedDRA LLT]
- Elevated circulating creatine kinase concentration [HPO term]
- Phosphokinase creatine serum increased [MedDRA LLT]
- Plasma creatine phosphokinase increased [MedDRA LLT]
- Serum creatine phosphokinase increased [MedDRA LLT]

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