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Metadata
ID DOID:0111520
Name autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
Definition A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the TWNK gene on chromosome 10q24.31.
https://www.ncbi.nlm.nih.gov/pubmed/11431692
Xrefs

OMIM:609286

Synonyms

autosomal dominant progressive external ophthalmoplegia 3 [EXACT]

PEOA3 [EXACT]

Parent Relationships

is_a chronic progressive external ophthalmoplegia

is_a autosomal dominant disease

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