OBO ID: DOID:0111974 |
Term Name: | immunodeficiency 59 | Search Ontology: | |
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Definition: | A B cell and dendritic cell deficiency characterized by granulocytopenia, B-cell and dentritic cell deficiency, recurrent septic infections of the respiratory tract, skin, and mucous membranes, and stress-induced hypoglycemia that has_material_basis_in homozygous or compound heterozygous mutation in the HYOU1 gene on chromosome 11q23.3. https://pubmed.ncbi.nlm.nih.gov/27913302/ | ||
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Ontology: | Human Disease ( DOID:0111974 ) |
OTHER immunodeficiency 59 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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