Search Ontology:
Human Disease

autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2

Term ID
DOID:0111517
Synonyms
  • autosomal dominant progressive external ophthalmoplegia 2
  • PEOA2
Definition
A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SLC25A4 gene on chromosome 4q35.1. https://www.ncbi.nlm.nih.gov/pubmed/10926541
References
Ontology
Human Disease   ( DOID:0111517 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models