| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C1319315 | Adenocarcinoma of large intestine | disease | Digestive System Diseases; Neoplasms | Neoplastic Process | disease of anatomical entity; disease of cellular proliferation | Abnormality of the digestive system; Neoplasm | 54 | 41 |
| C1849334 | Robinow syndrome, autosomal recessive | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | Disease or Syndrome | genetic disease; syndrome | 1 | 2 |