12 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: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:2959 | hyperimmunoglobulin syndrome | A B cell deficiency that is characterized by relative predominance of certain immunoglobulin subtypes and deficiencies of others. |
| DOID:0080545 | hyper IgE syndrome | A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs. |
| DOID:3261 | hyper IgE recurrent infection syndrome 1 | A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21. |
11 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050736 | DOID:3261 |
| is_a | DOID:0080545 | DOID:3261 |
| is_a | DOID:7 | DOID:3261 |
| is_a | DOID:2115 | DOID:3261 |
| is_a | DOID:612 | DOID:3261 |
| is_a | DOID:0050177 | DOID:3261 |
| is_a | DOID:630 | DOID:3261 |
| is_a | DOID:0050739 | DOID:3261 |
| is_a | DOID:2914 | DOID:3261 |
| is_a | DOID:2959 | DOID:3261 |
| is_a | DOID:4 | DOID:3261 |
