| | Disease name | Disease category |
Hyperlysinemia/Saccharopinuria | H00188 | Hyperlysinemia | Inherited metabolic disorder |
| H01242 | Saccharopinuria | Inherited metabolic disorder |
PDE | H01247 | Pyridoxine-dependent epilepsy | Nervous system disease |
DECR | H01929 | 2,4-Dienoyl-CoA reductase deficiency | Inherited metabolic disorder, Mitochondrial disease |
AAKAD | H02644 | Alpha-aminoadipic and alpha-ketoadipic aciduria | Inherited metabolic disorder |
GA1 | H00178 | Glutaric acidemia | Inherited metabolic disorder |
Hydroxykynureninuria/VCRL2 | H01583 | Hydroxykynureninuria | Inherited metabolic disorder |
| H02087 | Vertebral, cardiac, renal, and limb defects syndrome | Inherited metabolic disorder |
VCRL1 | H02087 | Vertebral, cardiac, renal, and limb defects syndrome | Inherited metabolic disorder |
VCRL3 | H02087 | Vertebral, cardiac, renal, and limb defects syndrome | Inherited metabolic disorder |