| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C1970497 | Crumpled long bones | phenotype | Finding | Abnormality of the skeletal system | 1 | 1 | ||
| C0240231 | Fractures of the long bones | phenotype | Wounds and Injuries | Finding | Abnormality of the skeletal system | 1 | 1 | |
| C1833762 | Decreased calvarial ossification | phenotype | Finding | Abnormality of head or neck; Abnormality of the skeletal system | 1 | 1 | ||
| C1850171 | Neonatal short-limb short stature | phenotype | Finding | Growth abnormality | 1 | 1 |