10 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: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: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:11200 | T cell deficiency | A primary immunodeficiency disease that is characterized by decreased numbers of circulating or functioning T cells. |
| DOID:0112277 | immunodeficiency 79 | A T cell deficiency characterized by childhood onset of recurrent and recalcitrant skin warts due to uncontrolled viral infection with human papillomavirus and absence of the CD4 antigen on T cells, monocytes, and dendritic cells that has_material_basis_in homozygous or compound heterozygous mutation in CD4 on chromosome 12p13. |
9 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:11200 | DOID:0112277 |
| is_a | DOID:0050737 | DOID:0112277 |
| is_a | DOID:0050177 | DOID:0112277 |
| is_a | DOID:630 | DOID:0112277 |
| is_a | DOID:0050739 | DOID:0112277 |
| is_a | DOID:612 | DOID:0112277 |
| is_a | DOID:7 | DOID:0112277 |
| is_a | DOID:4 | DOID:0112277 |
| is_a | DOID:2914 | DOID:0112277 |
