OBO ID: DOID:0111942
Term Name: immunodeficiency 25 Search Ontology:
Synonyms:
  • IMD25
  • immunodeficiency due to defect in CD3-zeta
Definition: A T cell deficiency characterized by decreased T cell counts, normal B cell counts, and eosinophilia that has_material_basis_in homozygous or compound heterozygous mutation in CD247 on chromosome 1q24.2. https://pubmed.ncbi.nlm.nih.gov/16672702/
References:
Ontology: Human Disease   (DOID:0111942)
OTHER immunodeficiency 25 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CD247 ?Immunodeficiency 25 610163
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None