| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0085390 | Li-Fraumeni Syndrome | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases | Disease or Syndrome | genetic disease | 1 | 63 | |
| C0006118 | Brain Neoplasms | group | Neoplasms; Nervous System Diseases | Neoplastic Process | disease of anatomical entity; disease of cellular proliferation | Abnormality of the nervous system; Neoplasm | 1 | 5 |