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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: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
mitochondrial metabolism disease (is_a)