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Metadata
ID DOID:0111519
Name autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6
Definition A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in the DNA2 gene on chromosome 10q21.3.
https://www.ncbi.nlm.nih.gov/pubmed/23352259
Xrefs

OMIM:615156

ORDO:352470

Subsets

DO_rare_slim

Synonyms

autosomal dominant progressive external ophthalmoplegia 6 [EXACT]

DNA2-related mitochondrial DNA deletion syndrome [EXACT]

mitochondrial DNA deletion syndrome with limb-girdle weakness [EXACT]

mitochondrial DNA deletion syndrome with progressive myopathy [EXACT]

mtDNA deletion syndrome with limb-girdle weakness [EXACT]

mtDNA deletion syndrome with progressive myopathy [EXACT]

PEOA6 [EXACT]

Parent Relationships

is_a chronic progressive external ophthalmoplegia

is_a autosomal dominant disease

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