|
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:627
|
severe combined immunodeficiency
|
A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems. |
|
DOID:0111962
|
combined immunodeficiency
|
A primary immunodeficiency disease that involves multiple components of the immune system. |
|
DOID:0090012
|
severe combined immunodeficiency with sensitivity to ionizing radiation
|
A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13. |
