Source: ALL
| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C1300256 | Thanatophoric dysplasia, type 1 | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Disease or Syndrome | 1 | 4 |