15 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: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:12449 | aplastic anemia | A normocytic anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow. |
| DOID:1342 | congenital hypoplastic anemia | An aplastic anemia that is characterized by insufficient production of red blood cells, usually seen in the first year of life. |
| DOID:1339 | Diamond-Blackfan anemia | A pure red-cell aplasia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction. |
| DOID:1340 | pure red-cell aplasia | A congenital hypoplastic anemia that is characterized by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow. |
| DOID:0111880 | Diamond-Blackfan anemia 17 | A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS27 gene on chromosome 1q21.3. |
14 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:1339 | DOID:0111880 |
| is_a | DOID:0050736 | DOID:0111880 |
| is_a | DOID:0050177 | DOID:0111880 |
| is_a | DOID:630 | DOID:0111880 |
| is_a | DOID:720 | DOID:0111880 |
| is_a | DOID:2355 | DOID:0111880 |
| is_a | DOID:0050739 | DOID:0111880 |
| is_a | DOID:0080015 | DOID:0111880 |
| is_a | DOID:74 | DOID:0111880 |
| is_a | DOID:7 | DOID:0111880 |
| is_a | DOID:1342 | DOID:0111880 |
| is_a | DOID:1340 | DOID:0111880 |
| is_a | DOID:12449 | DOID:0111880 |
| is_a | DOID:4 | DOID:0111880 |
