| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C3888239 | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | disease | Finding | 1 | 33 | |||
| C1833921 | Familial medullary thyroid carcinoma | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases | Neoplastic Process | genetic disease; disease of anatomical entity; disease of cellular proliferation | 1 | 19 | |
| C0025268 | Multiple Endocrine Neoplasia Type 2a | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases | Neoplastic Process | genetic disease | 1 | 17 |