| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0024796 | Marfan Syndrome | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | Disease or Syndrome | disease of anatomical entity | 130 | 1012 | |
| C4707243 | Familial thoracic aortic aneurysm and aortic dissection | disease | Disease or Syndrome | disease of anatomical entity | 59 | 442 | ||
| C1851286 | Ectopia lentis isolated | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 5 | 3 |