| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0025202 | melanoma | disease | Neoplasms | Neoplastic Process | disease of cellular proliferation | Neoplasm | 3087 | 515 |
| C0010278 | Craniosynostosis | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Disease or Syndrome | disease of anatomical entity | Abnormality of head or neck; Abnormality of the skeletal system | 488 | 90 |
| C1864852 | CATSHL syndrome | disease | Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases | Disease or Syndrome | genetic disease | 1 | 10 |