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GENE - TERM ANNOTATION REPORT

RGD ID: 13958420
Species: Sus scrofa
RGD Object: Gene
Symbol: G6PD
Name: glucose-6-phosphate dehydrogenase
Acc ID: DOID:0111936
Term: immunodeficiency 14
Definition: A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in the PIK3CD gene on chromosome 1p36.22. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/activated-pi3k-delta-syndrome "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/24165795/ "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
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