|  Help  |  About  |  Contact Us

DO Term : immunodeficiency 59 [DOID:0111974] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • MESH:C565535,
  • immunodeficiency 59 and hypoglycemia,
  • OMIM:233600,
  • IMD59,
  • granulocytopenia with immunoglobin abnormality,
  • 233600,
  • UMLS_CUI:C1856263
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents