| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0265253 | Stickler syndrome (disorder) | disease | Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases | Disease or Syndrome | 2 | 3 |