| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0027672 | Neoplastic Syndromes, Hereditary | group | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | Neoplastic Process | 88 | 6387 | ||
| C0031269 | Peutz-Jeghers Syndrome | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases | Disease or Syndrome | disease of anatomical entity; disease of cellular proliferation | 71 | 79 |