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Human Disease

autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5

Term ID
DOID:0111524
Synonyms
  • autosomal recessive progressive external ophthalmoplegia 5
  • PEOB5
Definition
A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the TOP3A gene on chromosome 17p11.2. https://www.ncbi.nlm.nih.gov/pubmed/29290614
References
Ontology
Human Disease   ( DOID:0111524 )
Relationships
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Genes Involved
Zebrafish Models