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autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 (DOID:0111524)
Alliance: disease page
Synonyms: autosomal recessive progressive external ophthalmoplegia 5; PEOB5
Alt IDs: OMIM:618098
Definition: A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the TOP3A gene on chromosome 17p11.2.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory