Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
immunodeficiency 17
Summary
- Synonym
-
- CD3-gamma deficiency
- IMD17
- SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive
- immunodeficiency 17, CD3 gamma deficient
- 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.
- Super Class
- T cell deficiency autosomal recessive disease
External Links
- Disease Ontology
- DOID:0111973
- Mondo Disease Ontology
- UMLS
- OMIM
Related Genes
