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

• MIM:618098

Ontology

Human Disease   ( DOID:0111524 )