FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term mitochondrial DNA depletion syndrome 11 ID (Ontology) DOID:0080129 (Human Disease)
Definition A mitochondrial DNA depletion syndrome that is characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial genome maintenance exonuclease 1 gene on chromosome 20p11.
Also Known As "progressive external ophthalmoplegia-myopathy-emaciation syndrome"
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autosomal genetic disease
 |__autosomal recessive disease___________
mitochondrial metabolism disease          |
 |__mitochondrial DNA depletion syndrome__|
                                          mitochondrial DNA depletion syndrome 11
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Is a autosomal recessive disease
mitochondrial DNA depletion syndrome
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Synonyms
  • "progressive external ophthalmoplegia-myopathy-emaciation syndrome" EXACT
Secondary IDs
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MIM:615084
ORDO:352447