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: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:0060010 | Omenn syndrome | A severe combined immunodeficiency that has_material_basis_in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly. |
6 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:627 | DOID:0060010 |
| is_a | DOID:7 | DOID:0060010 |
| is_a | DOID:4 | DOID:0060010 |
| is_a | DOID:2914 | DOID:0060010 |
| is_a | DOID:0111962 | DOID:0060010 |
| is_a | DOID:612 | DOID:0060010 |
