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Disease Ontology Browser
immunodeficiency 59 (DOID:0111974)
Alliance: disease page
Synonyms: granulocytopenia with immunoglobin abnormality; IMD59; immunodeficiency 59 and hypoglycemia
Alt IDs: OMIM:233600, MESH:C565535, UMLS_CUI:C1856263
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory