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 / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
autoinflammation, antibody deficiency, and immune dysregulation syndrome
Summary
- Synonym
-
- APLAID
- autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
- Definition
- An autoimmune disease characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract that has_material_basis in heterozygous mutation in PLCG2 on chromosome 16q23.
- Super Class
- autosomal dominant disease primary immunodeficiency disease
External Links
- Disease Ontology
- DOID:0070615
- Mondo Disease Ontology
- UMLS
- ORDO
- GARD
