14 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:0080015 | physical disorder | A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. |
| DOID:74 | hematopoietic system disease | A disease of anatomical entity that has_material_basis_in hematopoietic cells. |
| DOID:2355 | anemia | A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells. |
| DOID:583 | hemolytic anemia | A normocytic anemia that is characterized by the rate of descruction of red blood cells exceeding the rate than they can be made. |
| DOID:720 | normocytic anemia | An anemia that is characterized by circulating red blood cells that are the same size and have a normal red color and a mean corpuscular volume (MCV) between 80 and 100 fL. |
| DOID:589 | congenital hemolytic anemia | |
| DOID:12971 | hereditary spherocytosis | A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape. |
| DOID:0110919 | hereditary spherocytosis type 4 | A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SLC4A1 gene on chromosome 17q21.31. |
13 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050736 | DOID:0110919 |
| is_a | DOID:12971 | DOID:0110919 |
| is_a | DOID:0050739 | DOID:0110919 |
| is_a | DOID:0080015 | DOID:0110919 |
| is_a | DOID:0050177 | DOID:0110919 |
| is_a | DOID:7 | DOID:0110919 |
| is_a | DOID:74 | DOID:0110919 |
| is_a | DOID:2355 | DOID:0110919 |
| is_a | DOID:589 | DOID:0110919 |
| is_a | DOID:4 | DOID:0110919 |
| is_a | DOID:720 | DOID:0110919 |
| is_a | DOID:630 | DOID:0110919 |
| is_a | DOID:583 | DOID:0110919 |
