Myopathy due to malate-aspartate shuttle defect

Preferred Label : Myopathy due to malate-aspartate shuttle defect;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 254960;

Details

Origin ID

254960;

UMLS CUI

C1850744;

Currated CISMeF NLP mapping
- myopathy due to Malate-Aspartate shuttle defect [MeSH concept]
- myopathy due to Malate-Aspartate shuttle defect [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Exercise-induced myalgia [HPO term]
- Myopathy [HPO term]
- Red urine [HPO term]
Not associated HPO term(s)
- Facial palsy [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- myopathy due to Malate-Aspartate shuttle defect [MeSH Supplementary Concept]
- myopathy due to Malate-Aspartate shuttle defect [MeSH concept]

Keyword's position in hierarchy(ies) :

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