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: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:74 | hematopoietic system disease | A disease of anatomical entity that has_material_basis_in hematopoietic cells. |
| DOID:1227 | neutropenia | |
| DOID:0050590 | severe congenital neutropenia | A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections. |
| DOID:12987 | agranulocytosis | A leukopenia that is characterized by a severe lack of of granulocytes with a drop in granulocyte concentration below 200 cells/mm³ of blood. |
| DOID:9500 | leukocyte disease | A hematopoietic system disease that is located_in white blood cells. |
| DOID:615 | leukopenia | A leukocyte disorder that is characterized by a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection. |
| DOID:0112133 | severe congenital neutropenia 3 | A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that has_material_basis_in homozygous or compound heterozygous mutation in the HAX1 gene on chromosome 1q21.3. |
13 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050737 | DOID:0112133 |
| is_a | DOID:0050590 | DOID:0112133 |
| is_a | DOID:74 | DOID:0112133 |
| is_a | DOID:1227 | DOID:0112133 |
| is_a | DOID:0050177 | DOID:0112133 |
| is_a | DOID:630 | DOID:0112133 |
| is_a | DOID:9500 | DOID:0112133 |
| is_a | DOID:0080015 | DOID:0112133 |
| is_a | DOID:0050739 | DOID:0112133 |
| is_a | DOID:7 | DOID:0112133 |
| is_a | DOID:615 | DOID:0112133 |
| is_a | DOID:12987 | DOID:0112133 |
| is_a | DOID:4 | DOID:0112133 |
