OBO ID: DOID:0111949 |
Term Name: | immunodeficiency 36 | Search Ontology: | |
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Definition: | A combined T cell and B cell immunodeficiency characterized by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13.1. https://pubmed.ncbi.nlm.nih.gov/27221134/ | ||
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Ontology: | Human Disease ( DOID:0111949 ) |
OTHER immunodeficiency 36 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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