| | Disease name | Disease category |
| Dopa-responsive dystonia | H02557 | Dopa-responsive dystonia | Nervous system disease |
| AADC deficiency | H01161 | Aromatic L-amino acid decarboxylase deficiency | Nervous system disease |
| Brunner syndrome | H00548 | Brunner syndrome | Inherited metabolic disorder |
| PD | H00057 | Parkinson disease | Neurodegenerative disease |
| PKDYS2 | H02676 | Infantile-onset parkinsonism-dystonia | Nervous system disease |
| PKDYS1 | H02676 | Infantile-onset parkinsonism-dystonia | Nervous system disease |
| DBH deficiency | H01005 | Dopamine beta-hydroxylase deficiency | Nervous system disease |
| MDD/ADHD | H01646 | Major depressive disorder | Mental and behavioural disorder |
| H01895 | Attention deficit hyperactivity disorder (ADHD) | Mental and behavioural disorder |
| OCA1 | H00168 | Oculocutaneous albinism | Inherited metabolic disorder |
| OCA8 | H00168 | Oculocutaneous albinism | Inherited metabolic disorder |
| OCA3 | H00168 | Oculocutaneous albinism | Inherited metabolic disorder |
| Dopa-responsive dystonia | H02557 | Dopa-responsive dystonia | Nervous system disease |
| SPR deficiency | H02597 | Sepiapterin reductase deficiency | Inherited metabolic disorder |