| Diseases | Rating | Bibliogr. | Expand | |
|---|---|---|---|---|
| 1 | Metabolism, Inborn Errors | 100 | + + | |
| 2 | Heredodegenerative Disorders, Nervous System | 64 | + + | |
| 3 | Eye Diseases, Hereditary | 61 | + + | |
| 4 | Chromosome Disorders | 32 | + + | |
| 5 | Anemia, Hemolytic, Congenital | 15 | + + | |
| 6 | Werner Syndrome | 14 | + + | |
| 7 | Hemoglobinopathies | 10 | + + | |
| 8 | Genetic Diseases, X-Linked | 8 | + + | |
| 9 | Cystic Fibrosis | 7 | + + | |
| 10 | Dwarfism | 4 | + + | |
| 11 | Skin Diseases, Genetic | 2 | + + |