Disease Term Disease ID Gene Symbol References
HHH syndrome C0268540 SLC25A15 11552031, 12807890, 16376511, 10805333, 11814739, 18978333, 23430880, 10369256, 27604308, 11668643, 16601889, 19242930, 23247599
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 415 SLC25A15