Carnitine deficiency, myopathic

Preferred Label : Carnitine deficiency, myopathic;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal recessive;

Prefixed ID : %212160;

Details

Origin ID

212160;

UMLS CUI

C1859318;

Currated CISMeF NLP mapping
- myopathic carnitine deficiency [MeSH concept]
- myopathic carnitine deficiency [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased plasma carnitine [HPO term]
- Myopathy [HPO term]
- Reduced muscle carnitine level [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- myopathic carnitine deficiency [MeSH Supplementary Concept]
- myopathic carnitine deficiency [MeSH concept]

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