12 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: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:11252 | microcytic anemia | An anemia that is characterized by a low normal mean corpuscular volume (MCV) (less than 80 fL) and is defined by the presence of small, often hypochromic, red blood cells in a peripheral blood smear. |
| DOID:2355 | anemia | A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells. |
| DOID:10241 | thalassemia | A microcytic anemia characterized by decreased synthesis of one or more hemoglobin polypeptide chains. |
| DOID:1099 | alpha thalassemia | A thalassemia involving the genes HBA1and HBA2 hemoglobin genes. |
| DOID:0110031 | hemoglobin H disease | An alpha thalassemia that has_material_basis_in contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other. |
11 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:1099 | DOID:0110031 |
| is_a | DOID:74 | DOID:0110031 |
| is_a | DOID:0050739 | DOID:0110031 |
| is_a | DOID:11252 | DOID:0110031 |
| is_a | DOID:10241 | DOID:0110031 |
| is_a | DOID:0050177 | DOID:0110031 |
| is_a | DOID:7 | DOID:0110031 |
| is_a | DOID:2355 | DOID:0110031 |
| is_a | DOID:0050737 | DOID:0110031 |
| is_a | DOID:630 | DOID:0110031 |
| is_a | DOID:4 | DOID:0110031 |
