Search Ontology:
Human Disease

autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5

Term ID
DOID:0111518
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 )
Relationships
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Genes Involved
Zebrafish Models