Disease association ontology term - MONDO:0014656 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2

Term summary

ID

MONDO:0014656

Name

progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2

Ontology or CV name

Disease association

Definition

Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RNASEH1 gene.

Parents

• is_a progressive external ophthalmoplegia with mitochondrial DNA deletions
• is_a adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

Annotation