1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0111904 | autosomal recessive thrombophilia due to protein C deficiency | A protein C deficiency characterized by typically early onset of venous thrombosis although in some cases it may have a milder, later onset that has_material_basis_in homozygous or compound heterozygous mutation in the PROC gene on chromosome 2q14.3. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:3756 | protein C deficiency | A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14. |
