Ophthalmoplegic neuromuscular disorder with abnormal mitochondria

Preferred Label : Ophthalmoplegic neuromuscular disorder with abnormal mitochondria;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive and/or mitochondrial;

Prefixed ID : 258470;

Details

Origin ID

258470;

UMLS CUI

C1850302;

Currated CISMeF NLP mapping
- ophthalmoplegic neuromuscular disorder with abnormal mitochondria [MeSH concept]
- ophthalmoplegic neuromuscular disorder with abnormal mitochondria [MeSH Supplementary Concept]
HPO term(s)
- Abnormal cranial nerve morphology [HPO term]
- Abnormal mitochondria in muscle tissue [HPO term]
- Autosomal recessive inheritance [HPO term]
- Mitochondrial inheritance [HPO term]
- Muscle weakness [HPO term]
- Ophthalmoplegia [HPO term]
- Ptosis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ophthalmoplegic neuromuscular disorder with abnormal mitochondria [MeSH Supplementary Concept]
- ophthalmoplegic neuromuscular disorder with abnormal mitochondria [MeSH concept]

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