15 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:0050736 | autosomal dominant disease | An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. |
| 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: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:0112130 | autosomal dominant severe congenital neutropenia | A severe congenital neutropenia that has_material_basis_in heterozygous mutation of an autosomal gene. |
| DOID:0112131 | severe congenital neutropenia 2 | An autosomal dominant severe congenital neutropenia that has_material_basis_in heterozygous mutation in the GFI1 gene on chromosome 1p22.1. |
14 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0112130 | DOID:0112131 |
| is_a | DOID:9500 | DOID:0112131 |
| is_a | DOID:0080015 | DOID:0112131 |
| is_a | DOID:0050177 | DOID:0112131 |
| is_a | DOID:0050590 | DOID:0112131 |
| is_a | DOID:630 | DOID:0112131 |
| is_a | DOID:74 | DOID:0112131 |
| is_a | DOID:1227 | DOID:0112131 |
| is_a | DOID:615 | DOID:0112131 |
| is_a | DOID:0050736 | DOID:0112131 |
| is_a | DOID:7 | DOID:0112131 |
| is_a | DOID:0050739 | DOID:0112131 |
| is_a | DOID:12987 | DOID:0112131 |
| is_a | DOID:4 | DOID:0112131 |
