14 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:417 | autoimmune disease | An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues. |
| 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: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:2115 | B cell deficiency | A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly. |
| 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:2583 | agammaglobulinemia | A B cell deficiency that is caused by a reduction in all types of gamma globulins. |
| DOID:12177 | common variable immunodeficiency | An agammaglobulinemia that is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells and that esults in insufficient production of antibodies needed to respond to exposure of pathogens. |
| DOID:0081152 | common variable immunodeficiency 10 | A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the NFKB2 gene on chromosome 10q24. |
13 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050736 | DOID:0081152 |
| is_a | DOID:12177 | DOID:0081152 |
| is_a | DOID:2583 | DOID:0081152 |
| is_a | DOID:612 | DOID:0081152 |
| is_a | DOID:417 | DOID:0081152 |
| is_a | DOID:4 | DOID:0081152 |
| is_a | DOID:0050737 | DOID:0081152 |
| is_a | DOID:630 | DOID:0081152 |
| is_a | DOID:0050739 | DOID:0081152 |
| is_a | DOID:7 | DOID:0081152 |
| is_a | DOID:0050177 | DOID:0081152 |
| is_a | DOID:2115 | DOID:0081152 |
| is_a | DOID:2914 | DOID:0081152 |
