Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
immunodeficiency 12
Summary
- Synonym
-
- IMD12
- combined immunodeficiency due to MALT1 deficiency
- Definition
- A combined immunodeficiency characterized by decreased titers of specific antibodies and impaired T cells proliferative responses to mitogens that has_material_basis_in homozygous or compound heterozygous mutation in the MALT1 gene on chromosome 18q21.32.
- Super Class
- autosomal recessive disease combined immunodeficiency
External Links
- Disease Ontology
- DOID:0111988
- Mondo Disease Ontology
- ORDO
- OMIM
