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: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:0050735 | X-linked monogenic disease | A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. |
| DOID:0080012 | X-linked recessive disease | A X-linked monogenic disease that has_material_basis_in recessive inheritance. |
| DOID:0111962 | combined immunodeficiency | A primary immunodeficiency disease that involves multiple components of the immune system. |
| DOID:628 | combined T cell and B cell immunodeficiency | A primary immunodeficiency disease characterized by impaired T cell-mediated immunity and impaired B cell mediated humoral immunity. |
| DOID:0060022 | CD40 ligand deficiency | A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE. |
10 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0080012 | DOID:0060022 |
| is_a | DOID:628 | DOID:0060022 |
| is_a | DOID:0050735 | DOID:0060022 |
| is_a | DOID:7 | DOID:0060022 |
| is_a | DOID:4 | DOID:0060022 |
| is_a | DOID:2914 | DOID:0060022 |
| is_a | DOID:0111962 | DOID:0060022 |
| is_a | DOID:630 | DOID:0060022 |
| is_a | DOID:0050177 | DOID:0060022 |
| is_a | DOID:612 | DOID:0060022 |
