| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0005129 | Bernard-Soulier Syndrome | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 3 | 13 |