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Metadata
ID DOID:0070329
Name mitochondrial DNA depletion syndrome
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.
https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/28215579, https://www.ncbi.nlm.nih.gov/pubmed/29344903, https://www.ncbi.nlm.nih.gov/pubmed/29950321, https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=35698
Xrefs

GARD:13643

OMIM:PS603041

ORDO:35698

Synonyms

mtDNA depletion syndrome [EXACT]

Parent Relationships

is_a mitochondrial metabolism disease

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