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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 |
|---|---|---|---|
| 1048 | CEACAM5 | CEA cell adhesion molecule 5 | |
| 1312 | COMT | catechol-O-methyltransferase | |
| 1555 | CYP2B6 | cytochrome P450 family 2 subfamily B member 6 | |
| 1738 | DLD | dihydrolipoamide dehydrogenase | |
| 2194 | FASN | fatty acid synthase | |
| 2220 | FCN2 | ficolin 2 | |
| 2539 | G6PD | glucose-6-phosphate dehydrogenase | |
| 2548 | GAA | alpha glucosidase | |
| 2719 | GPC3 | glypican 3 | |
| 2720 | GLB1 | galactosidase beta 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q7Z7D3 | V-set domain-containing T-cell activation inhibitor 1 | |
| Q8NFW8 | N-acylneuraminate cytidylyltransferase | |
| Q92185 | Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase | |
| Q9Y251 | Heparanase | |
| Q9Y2E5 | Epididymis-specific alpha-mannosidase | |
| Q9Y2V7 | Conserved oligomeric Golgi complex subunit 6 |
