FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ID (Ontology) DOID:0090110 (Human Disease)
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.
Also Known As "Autoimmune enteropathy type 1" ; "autoimmunity-immunodeficiency syndrome, X-linked" ; "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea" (for all, see Synonyms field below)
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome       1
 for disease ribbon | immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome       1
 model of | immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome       1
Spanning Tree (Parents/Children)
Only view relationship: 
X-linked monogenic disease
 |__X-linked recessive disease__
immune system disease           |
 |__autoimmune disease__________|
                                immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a X-linked recessive disease
autoimmune disease
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "Autoimmune enteropathy type 1" EXACT
    "autoimmunity-immunodeficiency syndrome, X-linked" EXACT
    "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea" EXACT
    "diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked" EXACT
    "DMSD" EXACT OMO:0003012
    "IDDM-secretory diarrhea syndrome" EXACT
    "immunodeficiency, polyendocrinopathy, and enteropathy, X-linked" EXACT
    "immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked" EXACT
    "IPEX" EXACT OMO:0003012
    "X-linked autoimmunity-allergic dysregulation syndrome" EXACT
    "XLAAD" EXACT OMO:0003012
    "XPID" EXACT OMO:0003012
Secondary IDs
hide External Crossreferences & Linkouts
GARD:1850
ICD10CM:E31.0
MESH:C580192
MIM:304790
ORDO:37042