| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0152441 | Madelung Deformity | disease | Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Congenital Abnormality | genetic disease; disease of anatomical entity; physical disorder | Abnormality of limbs; Abnormality of the skeletal system | 1 | 1 |