Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)

Definition

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

Also known as DGUOK mitochondrial DNA depletion syndrome, mitochondrial DNA depletion syndrome 3, mitochondrial DNA depletion syndrome 3 (hepatocerebral type), mitochondrial DNA depletion syndrome caused by mutation in DGUOK, mitochondrial DNA depletion syndrome type 3 — per MONDO

Also identified as

• DOID 0080121 per MONDO
• OMIM 251880 per MONDO
• Orphanet 279934 per MONDO