Mitochondrial myopathy with a defect in mitochondrial-protein transport

Preferred Label : Mitochondrial myopathy with a defect in mitochondrial-protein transport;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 251945;

Details

Origin ID

251945;

UMLS CUI

C1855034;

Currated CISMeF NLP mapping
- mitochondrial myopathy with a defect in mitochondrial protein transport [MeSH Supplementary Concept]
- mitochondrial myopathy with a defect in mitochondrial protein transport [MeSH concept]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Exercise intolerance [HPO term]
- Mitochondrial myopathy [HPO term]
- Muscle weakness [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- mitochondrial myopathy with a defect in mitochondrial protein transport [MeSH Supplementary Concept]
- mitochondrial myopathy with a defect in mitochondrial protein transport [MeSH concept]
Validated automatic mappings to NTBT
- Mitochondrial myopathy [ORDO Disease]

Keyword's position in hierarchy(ies) :

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