13 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:612 | primary immunodeficiency disease | An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation. |
| 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:0080578 | digenic disease | A polygenic disease that is characterized by expression of a phenotype that requires the presence of pathogenic variants in two different genes. |
| DOID:0060913 | proteosome-associated autoinflammatory syndrome | An autoinflammatory disease that is characterized by early onset, dermatitis, dysregulation of the immune response and variable features of recurrent fever, joint contractures, lipodystrophy, hepatosplenomegaly, anemia and calcifications. |
| DOID:0080577 | polygenic disease | A genetic disease that is characterized by the additive contributions of variants in multiple genes at different loci. |
| DOID:0051000 | autoinflammatory disease | A primary immunodeficiency disease that is characterized by the activation of innate immune cells without an infection or injury being present, thus kickstarting the release of cytokines and other immune responses, causing fever and inflammation. |
| DOID:0060916 | proteasome-associated autoinflammatory syndrome 3 | A proteasome-associated autoinflammatory syndrome that is characterized by nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression pattern with onset in early infancy and that has_material_basis_in a homozygous mutation in the PSMB4 gene on chromosome 1q21 or a heterozygous mutation in the PSMB4 gene and a heterozygous mutation in the PSMB9 gene on chromosome 6p21. |
12 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0060913 | DOID:0060916 |
| is_a | DOID:0050737 | DOID:0060916 |
| is_a | DOID:0080578 | DOID:0060916 |
| is_a | DOID:0050739 | DOID:0060916 |
| is_a | DOID:7 | DOID:0060916 |
| is_a | DOID:630 | DOID:0060916 |
| is_a | DOID:4 | DOID:0060916 |
| is_a | DOID:612 | DOID:0060916 |
| is_a | DOID:2914 | DOID:0060916 |
| is_a | DOID:0051000 | DOID:0060916 |
| is_a | DOID:0080577 | DOID:0060916 |
| is_a | DOID:0050177 | DOID:0060916 |
