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Ontology Browser
Term:
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 (DOID:0111515)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
autosomal recessive progressive external ophthalmoplegia 1  
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2  
A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the RNASEH1 gene on chromosome 2p25.3. (DO)
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3  
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4  
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5  
Autosomal Recessive Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 6  

Synonyms
Exact Synonyms: PEOB2 ;   adult-onset CPEO with mitochondrial myopathy ;   adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy ;   autosomal recessive progressive external ophthalmoplegia 2
Primary IDs: OMIM:616479
Xrefs: ORDO:329336
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/26094573 "DO" "DO"

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