Source: CLINGEN
| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
|---|---|---|---|---|---|---|---|
| C1861171 | THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder) | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | Disease or Syndrome | 1 |