OBO ID: DOID:0111974
Term Name: immunodeficiency 59 Search Ontology:
Synonyms:
  • granulocytopenia with immunoglobin abnormality
  • IMD59
  • immunodeficiency 59 and hypoglycemia
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. https://pubmed.ncbi.nlm.nih.gov/27913302/
References:
Ontology: Human Disease   (DOID:0111974)
OTHER immunodeficiency 59 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HYOU1 ?Immunodeficiency 59 and hypoglycemia 233600
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None