OBO ID: DOID:0111975
Term Name: immunodeficiency 44 Search Ontology:
Synonyms:
  • IMD44
Definition: A primary immunodeficiency disease characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination with apparent defects in mitochondrial fission and fusion that has_material_basis_in homozygous or compound heterozygous mutation in STAT2 on chromosome 12q13.3. (2)
References:
Ontology: Human Disease   (DOID:0111975)
OTHER immunodeficiency 44 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
STAT2 Immunodeficiency 44 616636
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None