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
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Summary
- Synonym
-
- Autoimmune enteropathy type 1
- DMSD
- IDDM-secretory diarrhea syndrome
- IPEX
- X-linked autoimmunity-allergic dysregulation syndrome
- XLAAD
- XPID
- autoimmunity-immunodeficiency syndrome, X-linked
- diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea
- diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked
- immunodeficiency, polyendocrinopathy, and enteropathy, X-linked
- immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked
- Definition
- An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has_material_basis_in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11.
- Super Class
- X-linked recessive disease autoimmune disease
External Links
- Disease Ontology
- DOID:0090110
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
