Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| HHH syndrome | C0268540 | SLC25A15 | Causal Pathogenic evidence from ClinVar | 10369256, 10805333, 11552031, 11668643, 11814739, 12807890, 16376511, 16601889, 18978333, 19242930, 23247599, 23430880, 27604308 | ClinVar |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 415 | SLC25A15 | Causal Pathogenic evidence from ClinVar | - | ClinVar |