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Ontology Browser

Term:
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 (DOID:0111516)
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  
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3  
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4  
An autosomal recessive disorder characterized by adult onset of eye muscle weakness and proximal limb muscle weakness associated with deletions of mtDNA on skeletal muscle biopsy, which results from defective mtDNA replication in post-mitotic muscle tissue. (OMIM)
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5  

Synonyms
Exact Synonyms: PEOB4 ;   adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency ;   adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency ;   progressive external ophthalmoplegia, autosomal recessive 4
Primary IDs: OMIM:617070
Xrefs: ORDO:329314
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/23043144

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