| | Disease name | Disease category |
| GM1 gangliosidosis | H00281 | GM1 gangliosidosis | Inherited metabolic disorder, Lysosomal disease |
| Tay-Sachs disease | H02016 | Tay-Sachs disease | Inherited metabolic disorder, Lysosomal disease |
| Sandhoff disease | H02017 | Sandhoff disease | Inherited metabolic disorder, Lysosomal disease |
| GM2 gangliosidosis, AB variant | H00124 | GM2 gangliosidoses | Inherited metabolic disorder, Lysosomal disease |
| Fabry disease | H00125 | Fabry disease | Inherited metabolic disorder, Lysosomal disease |
| Gaucher disease | H00126 | Gaucher disease | Inherited metabolic disorder, Lysosomal disease |
| Krabbe disease | H00135 | Krabbe disease | Inherited metabolic disorder, Lysosomal disease |
| Metachromatic leukodystrophy | H00127 | Metachromatic leukodystrophy | Inherited metabolic disorder, Lysosomal disease |
| Niemann-Pick disease | H00137 | Niemann-Pick disease type A/B | Inherited metabolic disorder, Lysosomal disease |
| Farber lipogranulomatosis | H00138 | Farber lipogranulomatosis | Inherited metabolic disorder, Lysosomal disease |