| | 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 |