Source: ALL
| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C4540251 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 7 | disease | Congenital Abnormality | genetic disease; disease of anatomical entity | 1 | 3 |
| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C4540251 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 7 | disease | Congenital Abnormality | genetic disease; disease of anatomical entity | 1 | 3 |