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:2914 | immune system disease | A disease of anatomical entity that is located_in the immune system. |
| 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:0060056 | hypersensitivity reaction disease | An immune system disease that has_material_basis_in abnormal immune responses. |
| DOID:2916 | hypersensitivity reaction type IV disease | A hypersensitivity reaction disease that is characterized by a cell-mediated response to antigens, where Th1 helper T cells react with antigens on antigen-presenting cells and cause a delayed type immune response. |
| DOID:6688 | autoimmune lymphoproliferative syndrome | A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen. |
| DOID:0110119 | autoimmune lymphoproliferative syndrome type 3 | An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the PRKCD gene on chromosome 3p21. |
10 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:6688 | DOID:0110119 |
| is_a | DOID:0050737 | DOID:0110119 |
| is_a | DOID:4 | DOID:0110119 |
| is_a | DOID:2914 | DOID:0110119 |
| is_a | DOID:0060056 | DOID:0110119 |
| is_a | DOID:630 | DOID:0110119 |
| is_a | DOID:2916 | DOID:0110119 |
| is_a | DOID:0050739 | DOID:0110119 |
| is_a | DOID:0050177 | DOID:0110119 |
| is_a | DOID:7 | DOID:0110119 |
