| Diseases | Rating | Bibliogr. | Expand | |
|---|---|---|---|---|
| 1 | Fabry Disease | 100 | + + | |
| 2 | Angiokeratoma | 44 | + + | |
| 3 | beta-Mannosidosis | 24 | + + | |
| 4 | Aspartylglucosaminuria | 16 | + + | |
| 5 | Fucosidosis | 11 | + + | |
| 6 | Lysosomal Storage Diseases, Nervous System | 10 | + + | |
| 7 | Glossitis | 9 | + + | |
| 8 | Skin Diseases, Genetic | 8 | + + | |
| 9 | Tinea | 5 | + + | |
| 10 | Multicystic Dysplastic Kidney | 4 | + + | |
| 11 | Sphingolipidoses | 4 | + + | |
| 12 | Hypertrophy, Left Ventricular | 2 | + + | |
| 13 | Skin Neoplasms | 1 | + + |