leigh syndrome, X-Linked

Preferred Label : leigh syndrome, X-Linked;

MeSH note : mutation in E1-alpha subunit of pyruvate dehydrogenase complex;

Origin ID

C564114;

UMLS CUI

C1839885;

Currated CISMeF NLP mapping
- Leigh syndrome, x-linked [OMIM Phenotype]
MeSH term(s) associated for indexing
- genetic diseases, X-linked [MeSH Descriptor]
- leigh disease [MeSH Descriptor]
Record concept(s)
- leigh syndrome, X-Linked [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leigh syndrome, x-linked [OMIM Phenotype]