mitochondrial DNA depletion syndrome 8a
Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene.
MONDO:0016796
mitochondrial DNA depletion syndrome, encephalomyopathic form
is_a
MONDO:0017575
mitochondrial neurogastrointestinal encephalomyopathy
is_a
MTDPS8A
related
RRM2B mitochondrial DNA depletion syndrome
exact
RRM2B-related mitochondrial DNA depletion syndrome
related
encephalomyopathic type with renal tubulopathy
related
mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)
related
mitochondrial DNA depletion syndrome caused by mutation in RRM2B
exact
mitochondrial DNA depletion syndrome type 8a
exact
mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy
exact
SPBC25D12.04