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Metadata
ID DOID:0111523
Name autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3
Definition A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TK2 on chromosome 16q21.
https://www.ncbi.nlm.nih.gov/pubmed/21937588
Xrefs

OMIM:617069

Synonyms

autosomal recessive progressive external ophthalmoplegia 3 [EXACT]

PEOB3 [EXACT]

Parent Relationships

is_a chronic progressive external ophthalmoplegia

is_a autosomal recessive disease

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