autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 6 Disease Ontology Browser

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autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 6 (DOID:0070759)
Alliance: disease page
Synonyms: PEOB6
Alt IDs: OMIM:620647, UMLS_CUI:C5882731
Definition: A chronic progressive external ophthalmoplegia characterized by ptosis and ophthalmoplegia as well as other clinical manifestations and multiple mtDNA deletions in muscle that has_material_basis_in homozygous mutation in the RRM1 gene on chromosome 11p15.

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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