7 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: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:0081450 | hyperimmunoglobulinemia D periodic fever syndrome | A hyperimmunoglobulin syndrome that is characterized as periodic fever from early infancy accompanied by elevated serum C-reactive protein and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding mevalonate kinase (MVK) on chromosome 12q24. |
6 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:2959 | DOID:0081450 |
| is_a | DOID:612 | DOID:0081450 |
| is_a | DOID:4 | DOID:0081450 |
| is_a | DOID:2914 | DOID:0081450 |
| is_a | DOID:7 | DOID:0081450 |
| is_a | DOID:2115 | DOID:0081450 |
