OBO ID: DOID:0111971
Term Name: immunodeficiency 18 Search Ontology:
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 CD3E on chromosome 11q23.3. (2)
References:
Ontology: Human Disease   (DOID:0111971)
OTHER immunodeficiency 18 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CD3E Immunodeficiency 18, SCID variant 615615
Immunodeficiency 18 615615
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None