| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0349588 | Short stature | phenotype | Finding | Growth abnormality | 190 | 292 | ||
| C0410529 | Hypochondroplasia (disorder) | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | Congenital Abnormality | genetic disease; disease of anatomical entity | 1 | 21 |