About   Help   FAQ
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 HYOU1 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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
06/23/2022
MGI 6.20
The Jackson Laboratory