| | Disease name | Disease category |
| MEHMO | H02195 | MEHMO syndrome | Congenital malformation |
| VWM1 | H00869 | Leukoencephalopathy with vanishing white matter | Nervous system disease |
| VWM2 | H00869 | Leukoencephalopathy with vanishing white matter | Nervous system disease |
| VWM3 | H00869 | Leukoencephalopathy with vanishing white matter | Nervous system disease |
| VWM4 | H00869 | Leukoencephalopathy with vanishing white matter | Nervous system disease |
| VWM5 | H00869 | Leukoencephalopathy with vanishing white matter | Nervous system disease |
| LEMSPAD | H02457 | Developmental delay, leukoencephalopathy, and neurologic decompensation | Nervous system disease |
| DYT33/LEUDEN | H00831 | Primary dystonia | Nervous system disease |
| H02457 | Developmental delay, leukoencephalopathy, and neurologic decompensation | Nervous system disease |
| WRS | H00766 | Wolcott-Rallison syndrome | Endocrine and metabolic disease |
| PVOD2 | H01866 | Pulmonary veno-occlusive disease | Cardiovascular disease |
| MSSGM2 | H01923 | Microcephaly, short stature, and impaired glucose metabolism | Congenital malformation |
| PARK22 | H00057 | Parkinson disease | Neurodegenerative disease |
| FTDALS2/IMMD | H02342 | Frontotemporal dementia and amyotrophic lateral sclerosis | Nervous system disease |
| H03051 | Autosomal dominant isolated mitochondrial myopathy | Inherited metabolic disorder |
| CODAS | H01824 | CODAS syndrome | Congenital malformation |
| SIDBA4/EVPLS | H00982 | Sideroblastic anemia | Hematologic disease |
| H02343 | EVEN-plus syndrome | Congenital malformation |
| SPG13/HLD4 | H00266 | Hereditary spastic paraplegia | Nervous system disease |
| H00679 | Hypomyelinating leukodystrophy | Inherited metabolic disorder |