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DOID:0070329 - mitochondrial DNA depletion syndrome
Disease Ontology Definition:A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs.
Synonyms: mtDNA depletion syndrome
Xenbase Genes : suclg1, polg, sucla2, fbxl4, rrm2b, twnk, agk, tk2, tymp, slc25a4, dguok, mgme1, mpv17
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
mitochondrial metabolism disease (is_a)