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Standards Ontologies Notations
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
Displaying entries 1 - 10 of 67 in total
Gene ID Gene Symbol Description Source
142 PARP1 poly(ADP-ribose) polymerase 1
178 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
353 APRT adenine phosphoribosyltransferase
410 ARSA arylsulfatase A
684 BST2 bone marrow stromal cell antigen 2
811 CALR calreticulin
929 CD14 CD14 molecule
945 CD33 CD33 molecule
952 CD38 CD38 molecule
960 CD44 CD44 molecule (IN blood group)
Displaying all 5 entries
Gene ID Gene Symbol Description Source
16195 Il6st interleukin 6 signal transducer
21897 Tlr1 toll-like receptor 1
21898 Tlr4 toll-like receptor 4
21899 Tlr6 toll-like receptor 6
24088 Tlr2 toll-like receptor 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source
29260 Tlr4 toll-like receptor 4
192281 Oas1a 2'-5' oligoadenylate synthetase 1A
Displaying all 2 entries
Gene ID Gene Symbol Description Source
34137 Ostgamma Oligosaccharide transferase gamma subunit
43222 Tl Toll
Displaying 1 entry
Gene ID Gene Symbol Description Source
854252 OST3 dolichyl-diphosphooligosaccharide--protein glycotransferase OST3
Related Glycoprotein
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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024