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Metadata
ID	DOID:0080129
Name	mitochondrial DNA depletion syndrome 11
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. https://www.ncbi.nlm.nih.gov/pubmed/23313956, https://www.ncbi.nlm.nih.gov/pubmed/28215579, https://www.omim.org/entry/615084
Xrefs	OMIM:615084 ORDO:352447
Subsets	DO_rare_slim
Synonyms	progressive external ophthalmoplegia-myopathy-emaciation syndrome [EXACT]
Parent Relationships	is_a mitochondrial DNA depletion syndrome is_a autosomal recessive disease