| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C1832702 | BRACHYDACTYLY, TYPE A2 | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Congenital Abnormality | genetic disease; disease of anatomical entity | Abnormality of limbs; Abnormality of the skeletal system | 2 | 5 |