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: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: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:0080544 | hyper IgM syndrome | A hyperimmunoglobin syndrome that is characterized by an immune system that fails to produce normal levels of the antibodies IgA, IgG and IgE but can produce normal or elevated levels of IgM. |
| DOID:2959 | hyperimmunoglobulin syndrome | A B cell deficiency that is characterized by relative predominance of certain immunoglobulin subtypes and deficiencies of others. |
| DOID:0060759 | immunodeficiency with hyper IgM type 5 | A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1. |
11 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050737 | DOID:0060759 |
| is_a | DOID:0080544 | DOID:0060759 |
| is_a | DOID:2115 | DOID:0060759 |
| is_a | DOID:0050177 | DOID:0060759 |
| is_a | DOID:630 | DOID:0060759 |
| is_a | DOID:0050739 | DOID:0060759 |
| is_a | DOID:7 | DOID:0060759 |
| is_a | DOID:2959 | DOID:0060759 |
| is_a | DOID:612 | DOID:0060759 |
| is_a | DOID:4 | DOID:0060759 |
| is_a | DOID:2914 | DOID:0060759 |
