autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3

Term ID

DOID:0111523

Synonyms

• autosomal recessive progressive external ophthalmoplegia 3
• PEOB3

Definition

A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TK2 on chromosome 16q21. https://www.ncbi.nlm.nih.gov/pubmed/21937588

References

• OMIM:617069

Ontology

Human Disease   ( DOID:0111523 )