| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0014084 | Enchondromatosis | disease | Musculoskeletal Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity; syndrome | Neoplasm; Abnormality of the skeletal system | 1 | 1 |