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: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:0080009 | X-linked dominant disease | A X-linked monogenic disease that has_material_basis_in dominant inheritance. |
| DOID:0050735 | X-linked monogenic disease | A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. |
| 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:0110030 | alpha thalassemia-X-linked intellectual disability syndrome | An alpha thalassemia that has_material_basis_in mutation in the ATRX gene on Xq21. |
13 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:1099 | DOID:0110030 |
| is_a | DOID:0080009 | DOID:0110030 |
| is_a | DOID:0050177 | DOID:0110030 |
| is_a | DOID:74 | DOID:0110030 |
| is_a | DOID:11252 | DOID:0110030 |
| is_a | DOID:10241 | DOID:0110030 |
| is_a | DOID:0050735 | DOID:0110030 |
| is_a | DOID:7 | DOID:0110030 |
| is_a | DOID:4 | DOID:0110030 |
| is_a | DOID:0050739 | DOID:0110030 |
| is_a | DOID:2355 | DOID:0110030 |
| is_a | DOID:0050737 | DOID:0110030 |
| is_a | DOID:630 | DOID:0110030 |
