Progressive external ophthalmoplegia, autosomal dominant, type 2

Preferred Label : Progressive external ophthalmoplegia, autosomal dominant, type 2;

ICD-11 definition : Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions-2 (PEOA2) is caused by heterozygous mutation in the nuclear-encoded ANT1 gene (SLC25A4; 103220) on chromosome 4q35. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Progressive external ophthalmoplegia caused by mutations in the POLG gene are associated with more complicated phenotypes than those forms caused by mutations in the ANT1 or C10ORF2 genes.;

Détails

Origin ID

446775180;

UMLS CUI

C1836460;

CISMeF manual mappings
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Autosomal dominant progressive external ophthalmoplegia type 2 (disorder) [SNOMED CT concept]
- Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 [OMIM Phenotype]
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 [OMIM Phenotype]
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 [MeSH concept]
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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