18 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:0014667 | disease of metabolism | A disease that involving errors in metabolic processes of building or degradation of molecules. |
| 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:655 | inherited metabolic disorder | A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality. |
| DOID:74 | hematopoietic system disease | A disease of anatomical entity that has_material_basis_in hematopoietic cells. |
| DOID:9252 | amino acid metabolic disorder | An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids. |
| 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:2861 | congenital nonspherocytic hemolytic anemia | |
| DOID:0080699 | glutathione synthetase deficiency | An amino acid metabolic disorder characterized by the lack of glutathione production. |
| DOID:0112252 | congenital nonspherocytic hemolytic anemia 6 | A congenital nonspherocytic hemolytic anemia a mild form of glutathione synthetase deficiency characterized by hemolytic anemia and deficiency in GSH that is limited to the red blood cells, with nucleated cells able to maintain normal or near normal expression levels that has_material_basis_in homozygous or compound heterozygous mutation in GSS on chromosome 20q11.22. |
17 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0080699 | DOID:0112252 |
| is_a | DOID:2861 | DOID:0112252 |
| is_a | DOID:0050737 | DOID:0112252 |
| is_a | DOID:9252 | DOID:0112252 |
| is_a | DOID:0050177 | DOID:0112252 |
| is_a | DOID:0080015 | DOID:0112252 |
| is_a | DOID:2355 | DOID:0112252 |
| is_a | DOID:630 | DOID:0112252 |
| is_a | DOID:720 | DOID:0112252 |
| is_a | DOID:655 | DOID:0112252 |
| is_a | DOID:589 | DOID:0112252 |
| is_a | DOID:74 | DOID:0112252 |
| is_a | DOID:7 | DOID:0112252 |
| is_a | DOID:0050739 | DOID:0112252 |
| is_a | DOID:0014667 | DOID:0112252 |
| is_a | DOID:583 | DOID:0112252 |
| is_a | DOID:4 | DOID:0112252 |
