| Disease ID | Source | Name | Description |
| 176860 | OMIM | Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) | A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. Individuals with decreased amounts of protein C are classically referred to as having type I protein C deficiency and those with normal amounts of a functionally defective protein as having type II deficiency. The disease is caused by variants affecting the gene represented in this entry. |
| 612304 | OMIM | Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) | A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. It results in a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia. The severe form leads to neonatal death through massive neonatal venous thrombosis. Often associated with ecchymotic skin lesions which can turn necrotic called purpura fulminans, this disorder is very rare. The disease is caused by variants affecting the gene represented in this entry. |