Leigh syndrome, x-linked

Preferred Label : Leigh syndrome, x-linked;

Obsolete resource : true;

Moved to : 312170;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the e1-alpha polypeptide-1 of the pyruvate dehydrogenasecomplex gene (pdha1, 312170.0011);

Laboratory abnormalities : Increased serum lactate; Decreased activity of the pyruvate dehydrogenase complex;

Prefixed ID : 308930;

Details

Origin ID

308930;

UMLS CUI

C1839885;

Broader ORDO disease(s)
- Leigh syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- leigh syndrome, X-Linked [MeSH concept]
- leigh syndrome, X-Linked [MeSH Supplementary Concept]
HPO term(s)
- Demyelination [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- leigh syndrome, X-Linked [MeSH Supplementary Concept]
- leigh syndrome, X-Linked [MeSH concept]
Validated automatic mappings to NTBT
- Leigh disease [Disease (Nov.)]
- Leigh syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

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