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primary immunodeficiency disease
Summary
- Synonym
-
- hypoimmunity
- immune deficiency disorder
- immunodeficiency syndrome
- Definition
- 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.
- Super Class
- immune system disease
External Links
- Disease Ontology
- DOID:612
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 8809 | IL18R1 | interleukin 18 receptor 1 | |
| 9091 | PIGQ | phosphatidylinositol glycan anchor biosynthesis class Q | |
| 10555 | AGPAT2 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | |
| 10855 | HPSE | heparanase | |
| 23205 | ACSBG1 | acyl-CoA synthetase bubblegum family member 1 | |
| 23274 | CLEC16A | C-type lectin domain containing 16A | |
| 23324 | MAN2B2 | mannosidase alpha class 2B member 2 | |
| 23417 | MLYCD | malonyl-CoA decarboxylase | |
| 51478 | HSD17B7 | hydroxysteroid 17-beta dehydrogenase 7 | |
| 55907 | CMAS | cytidine monophosphate N-acetylneuraminic acid synthetase |
Related Glycoprotein
