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Human Disease

agammaglobulinemia 10

Term ID
DOID:0081142
Synonyms
Definition
An agammaglobulinemia that is characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. and that has_material_basis_in heterozygous mutation in the SPI1 gene on chromosome 11p11. https://pubmed.ncbi.nlm.nih.gov/32384040/
References
Ontology
Human Disease   ( DOID:0081142 )
Relationships
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Genes Involved
Zebrafish Models