Mitochondrial dna depletion syndrome, hepatocerebral
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) | C3151513 | DGUOK | 11687800, 15883261, 9175742, 12205643, 15639197, 27604308, 17538929 |
| Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency | 279934 | DGUOK | |
| Mitochondrial DNA depletion syndrome, hepatocerebrorenal form | 363534 | TWNK |