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Ontology Browser

Term:
autosomal recessive progressive external ophthalmoplegia 1 (DOID:0111522)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
autosomal recessive progressive external ophthalmoplegia 1  
A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in POLG on chromosome 15q26.1. (DO)
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2  
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  

Synonyms
Exact Synonyms: PEOB1 ;   progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1
Primary IDs: OMIM:258450
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/11431686

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.