| Diseases | Rating | Bibliogr. | Expand | |
|---|---|---|---|---|
| 1 | Metabolism, Inborn Errors | 100 | + + | |
| 2 | Cystic Fibrosis | 50 | + + | |
| 3 | Skin Diseases, Genetic | 47 | + + | |
| 4 | Blood Coagulation Disorders, Inherited | 33 | + + | |
| 5 | Anemia, Hemolytic, Congenital | 29 | + + | |
| 6 | Hemoglobinopathies | 29 | + + | |
| 7 | Neoplastic Syndromes, Hereditary | 26 | + + | |
| 8 | Brugada Syndrome | 22 | + + | |
| 9 | Chromosome Disorders | 21 | + + | |
| 10 | Hereditary Autoinflammatory Diseases | 19 | + + | |
| 11 | Marfan Syndrome | 19 | + + | |
| 12 | Heredodegenerative Disorders, Nervous System | 14 | + + |