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:0050554
|
X-linked sideroblastic anemia with ataxia
|
A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene. |
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. |