12 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:0050737 | autosomal recessive disease | An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. |
| 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: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. |
| 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. |
11 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:3756 | DOID:0111904 |
| is_a | DOID:0050737 | DOID:0111904 |
| is_a | DOID:74 | DOID:0111904 |
| is_a | DOID:1247 | DOID:0111904 |
| is_a | DOID:0050177 | DOID:0111904 |
| is_a | DOID:0050739 | DOID:0111904 |
| is_a | DOID:4 | DOID:0111904 |
| is_a | DOID:7 | DOID:0111904 |
| is_a | DOID:2452 | DOID:0111904 |
| is_a | DOID:0050736 | DOID:0111904 |
| is_a | DOID:630 | DOID:0111904 |
