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Metadata
ID DOID:0111522
Name autosomal recessive progressive external ophthalmoplegia 1
Definition A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the POLG gene on chromosome 15q26.1.
https://www.ncbi.nlm.nih.gov/pubmed/11431686
Xrefs

OMIM:258450

Synonyms

PEOB1 [EXACT]

Parent Relationships

is_a chronic progressive external ophthalmoplegia

is_a autosomal recessive disease

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