| | Disease name | Disease category |
| PMSE | H01112 | Polyhydramnios, megalencephaly, and symptomatic epilepsy | Congenital malformation |
| PJS | H00666 | Peutz-Jeghers syndrome | Digestive system disease |
| TSC1/LAM/FCDT | H00915 | Tuberous sclerosis complex | Congenital malformation |
| H00896 | Lymphangioleiomyomatosis | Respiratory system disease |
| H01251 | Focal cortical dysplasia of Taylor | Congenital malformation |
| AML/SEGA | H01691 | Renal angiomyolipoma | Neoplasm |
| H01692 | Subependymal giant cell astrocytoma | Nervous system disease |
| TSC2/LAM/FCDT | H00915 | Tuberous sclerosis complex | Congenital malformation |
| H00896 | Lymphangioleiomyomatosis | Respiratory system disease |
| H01251 | Focal cortical dysplasia of Taylor | Congenital malformation |
| MGCPH | H02446 | Autosomal recessive macrocephaly/megalencephaly syndrome | Congenital malformation |
| SKS/FCDT | H01928 | Smith-Kingsmore syndrome | Congenital malformation |
| H01251 | Focal cortical dysplasia of Taylor | Congenital malformation |
| HCMV | H00368 | Cytomegalovirus infection | Viral infectious disease |
| HPV | H00030 | Cervical cancer | Cancer |
| HSV | H00365 | Herpes simplex virus infection | Viral infectious disease |
| FFEVF1 | H02214 | Familial focal epilepsy with variable foci | Nervous system disease |
| FFEVF2 | H02214 | Familial focal epilepsy with variable foci | Nervous system disease |
| FFEVF3 | H02214 | Familial focal epilepsy with variable foci | Nervous system disease |
| LNGODS | H02697 | Long-Olsen-Distelmaier syndrome | Congenital malformation |
| HOMG | H01210 | Hypomagnesemia | Inherited metabolic disorder |
| BHD | H00818 | Birt-Hogg-Dube syndrome | Congenital malformation |