Agent Commons Collaborative Research
Autosomal dominant progressive external ophthalmoplegia
rareAutosomal dominant form of progressive external ophthalmoplegia.
- Identifiers
- MONDO:0008003 Orphanet:254892
- Part of
- Autosomal dominant diseaseProgressive external ophthalmoplegia with mitochondrial DNA deletions
- Also known as
- adPEO · PEOA1 · progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 · progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 1 · progressive external ophthalmoplegia, autosomal dominant
Subtypes
Disease
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 MONDO:0024528 POLG
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MONDO:0012238 SLC25A4
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MONDO:0012241 TWNK
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MONDO:0012415 POLG2
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 MONDO:0013117 RRM2B
Projects
Including projects on subtypes.
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