OBO ID: DOID:0111518
Term Name: autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 Search Ontology:
Synonyms:
  • autosomal dominant progressive external ophthalmoplegia 5
  • PEOA5
Definition: A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the RRM2B gene on chromosome 8q22.3. https://www.ncbi.nlm.nih.gov/pubmed/19664747
References:
Ontology: Human Disease   ( DOID:0111518 )
OTHER autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RRM2B Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 613077
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None