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Summary Literature (0)
MIM:612075 - MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY); MTDPS8A

Xenbase Genes: rrm2b

Human Disease Resource: MIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012792 - mitochondrial DNA depletion syndrome 8a
MONDO:0016796 - mitochondrial DNA depletion syndrome, encephalomyopathic form
MONDO:0017575 - mitochondrial neurogastrointestinal encephalomyopathy

Disease Ontology (DO):
DOID:0080127 - mitochondrial DNA depletion syndrome 8a