11 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:0050736 | autosomal dominant disease | An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. |
| 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:2451 | protein S deficiency | A thrombophilia that is characterized by increased risk of developing abnormal blood clots. |
| DOID:0111900 | autosomal dominant thrombophilia due to protein S deficiency | A protein S deficiency characterized by reduced serum protein S levels and recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROS1 gene on chromosome 3q11.1. |
10 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:2451 | DOID:0111900 |
| is_a | DOID:0050736 | DOID:0111900 |
| is_a | DOID:4 | DOID:0111900 |
| is_a | DOID:7 | DOID:0111900 |
| is_a | DOID:2452 | DOID:0111900 |
| is_a | DOID:0050177 | DOID:0111900 |
| is_a | DOID:630 | DOID:0111900 |
| is_a | DOID:0050739 | DOID:0111900 |
| is_a | DOID:74 | DOID:0111900 |
| is_a | DOID:1247 | DOID:0111900 |
