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: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: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:0060474 | familial erythrocytosis 2 | A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25. |
| 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. |
10 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050737 | DOID:0060474 |
| is_a | DOID:10780 | DOID:0060474 |
| is_a | DOID:7 | DOID:0060474 |
| is_a | DOID:4961 | DOID:0060474 |
| is_a | DOID:4 | DOID:0060474 |
| is_a | DOID:0050177 | DOID:0060474 |
| is_a | DOID:74 | DOID:0060474 |
| is_a | DOID:8432 | DOID:0060474 |
| is_a | DOID:630 | DOID:0060474 |
| is_a | DOID:0050739 | DOID:0060474 |
