Search Ontology:
Human Disease
immunodeficiency 18
- Term ID
- DOID:0111971
- Synonyms
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- 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 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models