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Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 (MONDO:0014656)

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

Overview

Category

Ontology ID

Internal:15651

Synonyms

RNASEH1 progressive external ophthalmoplegia with mitochondrial DNA deletions

progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RNASEH1

progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2

progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 2

PEOB2

progressive external ophthalmoplegia, autosomal recessive 2

Mapped terms

DOID:0111515

GARD:0018450

MEDGEN:901897

OMIM:616479

UMLS:C4225312

Child terms

Unknown children.