Search Ontology:
Human Disease

autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3

Term ID
DOID:0111520
Synonyms
  • autosomal dominant progressive external ophthalmoplegia 3
  • PEOA3
Definition
A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the TWNK gene on chromosome 10q24.31. https://www.ncbi.nlm.nih.gov/pubmed/11431692
References
Ontology
Human Disease   ( DOID:0111520 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models