| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0349588 | Short stature | phenotype | Finding | Growth abnormality | 190 | 292 | ||
| C1849075 | Relative macrocephaly | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | Congenital Abnormality | Abnormality of head or neck; Abnormality of the skeletal system | 17 | 19 |