9 Parents
| Identifier | Name | Description |
|---|---|---|
| DOID:7 | disease of anatomical entity | A disease that manifests in a defined anatomical structure. |
| DOID:4 | disease | A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. |
| DOID:0050177 | monogenic disease | A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. |
| DOID:630 | genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |
| DOID:0050739 | autosomal genetic disease | A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. |
| DOID:74 | hematopoietic system disease | A disease of anatomical entity that has_material_basis_in hematopoietic cells. |
| DOID:1247 | blood coagulation disease | A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding. |
| DOID:2452 | thrombophilia | A blood coagulation disease that is characterized by an increased tendency to form clots. |
| DOID:0111908 | thrombophilia due to thrombomodulin defect | A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in the THBD gene on chromosome 20p11.21. |
8 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:2452 | DOID:0111908 |
| is_a | DOID:0050739 | DOID:0111908 |
| is_a | DOID:0050177 | DOID:0111908 |
| is_a | DOID:630 | DOID:0111908 |
| is_a | DOID:74 | DOID:0111908 |
| is_a | DOID:1247 | DOID:0111908 |
| is_a | DOID:4 | DOID:0111908 |
| is_a | DOID:7 | DOID:0111908 |
