Search Ontology:
Human Disease

autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6

Term ID
DOID:0111519
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 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models