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progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.
Uniprot Description A severe form of progressive external ophthalmoplegia, a disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. It is clinically more heterogeneous than the autosomal dominant forms.
Mondo Term and Equivalent IDs
MONDO:0009783:  progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
DOID:0111522: 
GARD:0001191: 
UMLS:C4225153: