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:4961 | bone marrow disease | A hematopoietic system disease that is located_in the bone marrow. |
| DOID:74 | hematopoietic system disease | A disease of anatomical entity that has_material_basis_in hematopoietic cells. |
| DOID:10780 | primary polycythemia | A polycythemia that has_material_basis_in factors intrinsic to red cell precursors. |
| DOID:8432 | polycythemia | A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow. |
| DOID:0060652 | familial erythrocytosis 1 | A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO. |
10 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050736 | DOID:0060652 |
| is_a | DOID:10780 | DOID:0060652 |
| is_a | DOID:4 | DOID:0060652 |
| is_a | DOID:0050177 | DOID:0060652 |
| is_a | DOID:74 | DOID:0060652 |
| is_a | DOID:8432 | DOID:0060652 |
| is_a | DOID:630 | DOID:0060652 |
| is_a | DOID:0050739 | DOID:0060652 |
| is_a | DOID:7 | DOID:0060652 |
| is_a | DOID:4961 | DOID:0060652 |
