OBO ID: DOID:0111520
Term Name: autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 Search Ontology:
Synonyms:
  • autosomal dominant progressive external ophthalmoplegia 3
  • PEOA3
Definition: A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in TWNK on chromosome 10q24.31. https://www.ncbi.nlm.nih.gov/pubmed/11431692
References:
Ontology: Human Disease   (DOID:0111520)
OTHER autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TWNK Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 609286
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None