| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0349588 | Short stature | phenotype | Finding | Growth abnormality | 190 | 292 | ||
| C0239998 | Recurrent infections | phenotype | Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases | Finding | Abnormality of the immune system | 14 | 14 | |
| C4021790 | Abnormality of the skeletal system | disease | Anatomical Abnormality | Abnormality of the skeletal system | 11 | 13 | ||
| C4692625 | SHWACHMAN-DIAMOND SYNDROME 1 | disease | Disease or Syndrome | syndrome | 3 | 8 |