Search Ontology:
Human Disease

immunodeficiency 25

Term ID
DOID:0111942
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 the CD247 gene on chromosome 1q24.2. https://pubmed.ncbi.nlm.nih.gov/16672702/
References
Ontology
Human Disease   ( DOID:0111942 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models