| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0027708 | Nephroblastoma | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | Neoplastic Process | disease of anatomical entity; disease of cellular proliferation | Abnormality of the genitourinary system; Neoplasm | 586 | 125 |
| C0796154 | SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 | disease | Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases | Disease or Syndrome | genetic disease | 44 | 12 |