| | Disease name | Disease category |
| HPRL | H01388 | Hyperprolactinemia | Endocrine and metabolic disease |
| MFAB | H03129 | Multiple fibroadenomas of the breast | Reproductive system disease |
| DYT5a/HPABH4B | H02557 | Dopa-responsive dystonia | Nervous system disease |
| H00167 | Phenylketonuria | Inherited metabolic disorder |
| HPABH4A | H00167 | Phenylketonuria | Inherited metabolic disorder |
| SRD | H02597 | Sepiapterin reductase deficiency | Inherited metabolic disorder |
| HPABH4D | H00167 | Phenylketonuria | Inherited metabolic disorder |
| HPABH4C | H00167 | Phenylketonuria | Inherited metabolic disorder |
| DYT5b | H02557 | Dopa-responsive dystonia | Nervous system disease |
| AADCD | H01161 | Aromatic L-amino acid decarboxylase deficiency | Nervous system disease |