OBO ID: DOID:0111519
Term Name: autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 Search Ontology:
Synonyms:
  • autosomal dominant progressive external ophthalmoplegia 6
  • DNA2-related mitochondrial DNA deletion syndrome
  • mitochondrial DNA deletion syndrome with limb-girdle weakness
  • mitochondrial DNA deletion syndrome with progressive myopathy
  • mtDNA deletion syndrome with limb-girdle weakness
  • mtDNA deletion syndrome with progressive myopathy
  • PEOA6
Definition: A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in the DNA2 gene on chromosome 10q21.3. https://www.ncbi.nlm.nih.gov/pubmed/23352259
References:
Ontology: Human Disease   ( DOID:0111519 )
OTHER autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DNA2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 615156
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None