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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)
Parent Terms Term With Siblings Child Terms
autosomal recessive progressive external ophthalmoplegia 1  
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2  
A mitochondrial disorder characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia, such as impaired gait and dysarthria. (OMIM)
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: 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

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