| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0079744 | Diffuse Large B-Cell Lymphoma | disease | Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | Neoplastic Process | disease of anatomical entity; disease of cellular proliferation | 55 | 19 | |
| C0008924 | Cleft upper lip | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | Congenital Abnormality | disease of anatomical entity; syndrome; physical disorder | Abnormality of head or neck | 39 | 253 |
| C4748135 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES | disease | Disease or Syndrome | 1 | 6 |