Search Ontology:
Human Disease
immunodeficiency 17
- Term ID
- DOID:0111973
- Synonyms
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- CD3-gamma deficiency
- IMD17
- immunodeficiency 17, CD3 gamma deficient
- SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive
- Definition
- A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clincal severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3G gene on chromosome 11q23.3. (3)
- References
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- MIM:615607
- UMLS_CUI:C3810107
- Ontology
- Human Disease ( DOID:0111973 )
- is a type of
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Genes Involved
Zebrafish Models