| Diseases | Rating | Bibliogr. | Expand | |
|---|---|---|---|---|
| 1 | Neoplastic Syndromes, Hereditary | 100 | + + | |
| 2 | Skin Diseases, Genetic | 46 | + + | |
| 3 | Metabolism, Inborn Errors | 43 | + + | |
| 4 | Dwarfism | 29 | + + | |
| 5 | Heredodegenerative Disorders, Nervous System | 24 | + + | |
| 6 | Genetic Diseases, X-Linked | 23 | + + | |
| 7 | Chromosome Disorders | 22 | + + | |
| 8 | Adrenal Hyperplasia, Congenital | 12 | + + | |
| 9 | Ataxia Telangiectasia | 6 | + + | |
| 10 | CHARGE Syndrome | 5 | + + | |
| 11 | Pain Insensitivity, Congenital | 5 | + + | |
| 12 | Anemia, Hemolytic, Congenital | 4 | + + | |
| 13 | Hemoglobinopathies | 4 | + + | |
| 14 | Cystic Fibrosis | 3 | + + | |
| 15 | Hereditary Autoinflammatory Diseases | 3 | + + |