|
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: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:2987
|
familial Mediterranean fever
|
An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin. |
