Search Ontology:
Human Disease

immunodeficiency 18

Term ID
DOID:0111971
Synonyms
  • CD3-epsilon deficiency
  • IMD18
Definition
A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3E gene on chromosome 11q23.3. (2)
References
Ontology
Human Disease   ( DOID:0111971 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models