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Standards Ontologies Notations
agammaglobulinemia

Summary
Synonym
  • IGHM
  • hypogammaglobulinemia
  • mu heavy chain deficiency
Definition
A B cell deficiency that is caused by a reduction in all types of gamma globulins.
Super Class
B cell deficiency
Disease Ontology
DOID:2583
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
695 BTK Bruton tyrosine kinase
56262 LRRC8A leucine rich repeat containing 8 VRAC subunit A
Displaying all 2 entries
Gene ID Gene Symbol Description Source
12229 Btk Bruton agammaglobulinemia tyrosine kinase
241296 Lrrc8a leucine rich repeat containing 8A VRAC subunit A
Displaying 1 entry
Gene ID Gene Symbol Description Source
311846 Lrrc8a leucine rich repeat containing 8 VRAC subunit A
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: December 9, 2024