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: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:0111090 | Fanconi anemia complementation group R | A Fanconi anemia that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15. |
13 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:13636 | DOID:0111090 |
| is_a | DOID:0050736 | DOID:0111090 |
| is_a | DOID:7 | DOID:0111090 |
| is_a | DOID:2355 | DOID:0111090 |
| is_a | DOID:1342 | DOID:0111090 |
| is_a | DOID:12449 | DOID:0111090 |
| is_a | DOID:4 | DOID:0111090 |
| is_a | DOID:74 | DOID:0111090 |
| is_a | DOID:630 | DOID:0111090 |
| is_a | DOID:0050739 | DOID:0111090 |
| is_a | DOID:720 | DOID:0111090 |
| is_a | DOID:0080015 | DOID:0111090 |
| is_a | DOID:0050177 | DOID:0111090 |
