Search Ontology:
Human Disease
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5
- Term ID
- DOID:0111518
- Synonyms
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- 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 )
- is a type of
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