| 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 | |
| Subsets |
DO_rare_slim |
| Synonyms |
mtDNA depletion syndrome [EXACT] |
| Parent Relationships |