| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0432072 | Dysmorphic features | disease | Congenital Abnormality | 335 | 611 | |||
| C0000772 | Multiple congenital anomalies | group | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Congenital Abnormality | 237 | 350 | ||
| C1849265 | Overgrowth | phenotype | Finding | Growth abnormality | 81 | 93 |