OBO ID: DOID:0112004 |
Term Name: | immunodeficiency 71 | Search Ontology: | |
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Definition: | A combined immunodeficiency characterized by thrombocytopenia, impaired neutrophil and T-cell chemotaxis, impaired T-cell activation, and onset in infancy or early childhood of recurrent infections and inflammatory features that has_material_basis_in homozygous or compound heterozygous mutation in the ARPC1B gene on chromosome 7q22.1. https://pubmed.ncbi.nlm.nih.gov/30254128/ | ||
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Ontology: | Human Disease ( DOID:0112004 ) |
OTHER immunodeficiency 71 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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