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: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: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: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:0051001 | congenital dyserythropoietic anemia type IIIb | A congenital dyserythropoietic anemia characterized by macrocytic anemia, aberrant giant multinucleated erythroblasts in the bone marrow, and skull defects secondary to severe anemia with ineffective erythropoiesis and that has_material_basis_in homozygous or compound heterozygous mutation in the RACGAP1 gene on chromosome 12q13. |
| DOID:1338 | congenital dyserythropoietic anemia | A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. |
| DOID:589 | congenital hemolytic anemia |
13 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050737 | DOID:0051001 |
| is_a | DOID:1338 | DOID:0051001 |
| is_a | DOID:0050739 | DOID:0051001 |
| is_a | DOID:0080015 | DOID:0051001 |
| is_a | DOID:2355 | DOID:0051001 |
| is_a | DOID:583 | DOID:0051001 |
| is_a | DOID:589 | DOID:0051001 |
| is_a | DOID:4 | DOID:0051001 |
| is_a | DOID:720 | DOID:0051001 |
| is_a | DOID:630 | DOID:0051001 |
| is_a | DOID:0050177 | DOID:0051001 |
| is_a | DOID:7 | DOID:0051001 |
| is_a | DOID:74 | DOID:0051001 |
