| Diseases | Rating | Bibliogr. | Expand | |
|---|---|---|---|---|
| 1 | Genetic Diseases, Inborn | 100 | + + | |
| 2 | Genetic Predisposition to Disease | 97 | + + | |
| 3 | Diseases in Twins | 42 | + + | |
| 4 | Syndrome | 41 | + + | |
| 5 | Hearing Disorders | 41 | + + | |
| 6 | Neoplastic Syndromes, Hereditary | 34 | + + | |
| 7 | Abnormalities, Multiple | 30 | + + | |
| 8 | Chromosome Aberrations | 23 | + + | |
| 9 | Chromosome Disorders | 22 | + + | |
| 10 | Cell Transformation, Viral | 22 | + + | |
| 11 | Translocation, Genetic | 20 | + + | |
| 12 | Developmental Disabilities | 20 | + + | |
| 13 | Fragile X Syndrome | 19 | + + | |
| 14 | Synostosis | 18 | + + | |
| 15 | Cleft Palate | 18 | + + | |
| 16 | Sex Chromosome Aberrations | 17 | + + | |
| 17 | Chromosome Deletion | 17 | + + | |
| 18 | Abortion, Habitual | 17 | + + | |
| 19 | Intellectual Disability | 17 | + + | |
| 20 | Neoplasms | 16 | + + | |
| 21 | Orofaciodigital Syndromes | 16 | + + | |
| 22 | Congenital Abnormalities | 16 | + + | |
| 23 | Infertility, Male | 16 | + + | |
| 24 | Retinitis Pigmentosa | 16 | + + | |
| 25 | Deafness | 15 | + + | |
| 26 | Colorectal Neoplasms | 14 | + + | |
| 27 | Hand Deformities, Congenital | 13 | + + | |
| 28 | Trisomy | 13 | + + | |
| 29 | Disease Progression | 12 | + + | |
| 30 | Breast Neoplasms | 10 | + + | |
| 31 | Fetal Diseases | 10 | + + | |
| 32 | Neoplasms, Multiple Primary | 8 | + + |