Search Ontology:
Human Disease

autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4

Term ID
DOID:0111525
Synonyms
  • autosomal dominant progressive external ophthalmoplegia 4
  • PEOA4
Definition
A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG2 gene on chromosome 17q23.3. https://www.ncbi.nlm.nih.gov/pubmed/16685652
References
Ontology
Human Disease   ( DOID:0111525 )
Relationships
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Other Pages
Genes Involved
Zebrafish Models