Mitochondrial DNA depletion syndrome 8a

Definition

Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene.

Also known as mitochondrial DNA depletion syndrome caused by mutation in RRM2B, mitochondrial DNA depletion syndrome type 8a, mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy, RRM2B mitochondrial DNA depletion syndrome — per MONDO

Also identified as

• DOID 0070331 per MONDO
• DOID 0080127 per MONDO
• OMIM 612075 per MONDO
• Orphanet 255235 per MONDO
• SCTID 765100000 per MONDO
• UMLS C2749861 per MONDO