11 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: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:0080012 | X-linked recessive disease | A X-linked monogenic disease that has_material_basis_in recessive inheritance. |
DOID:8955 | sideroblastic anemia | A microcytic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes). |
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:0060063 | sideroblastic anemia 1 | A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production. |
10 Relations
Relationship |
Parent Term . Identifier |
Child Term . Identifier |
---|---|---|
is_a | DOID:8955 | DOID:0060063 |
is_a | DOID:0080012 | DOID:0060063 |
is_a | DOID:2355 | DOID:0060063 |
is_a | DOID:0050735 | DOID:0060063 |
is_a | DOID:7 | DOID:0060063 |
is_a | DOID:630 | DOID:0060063 |
is_a | DOID:11252 | DOID:0060063 |
is_a | DOID:4 | DOID:0060063 |
is_a | DOID:0050177 | DOID:0060063 |
is_a | DOID:74 | DOID:0060063 |