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: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:13636 | Fanconi anemia | A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. |
| 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:0111096 | Fanconi anemia complementation group O | A Fanconi anemia that has_material_basis_in homozygous mutation in the RAD51C gene on chromosome 17q21-q24. |
13 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:13636 | DOID:0111096 |
| is_a | DOID:0050737 | DOID:0111096 |
| is_a | DOID:0050177 | DOID:0111096 |
| is_a | DOID:720 | DOID:0111096 |
| is_a | DOID:74 | DOID:0111096 |
| is_a | DOID:0080015 | DOID:0111096 |
| is_a | DOID:2355 | DOID:0111096 |
| is_a | DOID:0050739 | DOID:0111096 |
| is_a | DOID:12449 | DOID:0111096 |
| is_a | DOID:4 | DOID:0111096 |
| is_a | DOID:7 | DOID:0111096 |
| is_a | DOID:1342 | DOID:0111096 |
| is_a | DOID:630 | DOID:0111096 |
