| Diseases | Rating | Bibliogr. | Expand | |
|---|---|---|---|---|
| 1 | Neuroaxonal Dystrophies | 100 | + + | |
| 2 | Muscular Dystrophy, Emery-Dreifuss | 67 | + + | |
| 3 | Chromosome Aberrations | 2 | + + | |
| 4 | Melanoma | 2 | + + | |
| 5 | Chromosomal Instability | 2 | + + | |
| 6 | Chromosome Disorders | 2 | + + | |
| 7 | Toxoplasmosis, Ocular | 1 | + + | |
| 8 | Nevus, Pigmented | 1 | + + | |
| 9 | Skin Neoplasms | 1 | + + | |
| 10 | Translocation, Genetic | 1 | + + | |
| 11 | Trisomy | 1 | + + | |
| 12 | Chorioretinitis | 1 | + + | |
| 13 | Abnormalities, Multiple | 1 | + + | |
| 14 | Tuberculosis, Ocular | 1 | + + | |
| 15 | Intellectual Disability | 1 | + + | |
| 16 | Aneuploidy | 1 | + + | |
| 17 | Chromosome Inversion | 1 | + + | |
| 18 | Chromosome Deletion | 1 | + + | |
| 19 | Nevus, Blue | 1 | + + | |
| 20 | Melanosis | 1 | + + | |
| 21 | Ring Chromosomes | 1 | + + |