| | 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 |