Search Ontology:
Human Disease

immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

Term ID
DOID:0090110
Synonyms
  • Autoimmune enteropathy type 1
  • autoimmunity-immunodeficiency syndrome, X-linked
  • diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea
  • diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked
  • DMSD
  • IDDM-secretory diarrhea syndrome
  • immunodeficiency, polyendocrinopathy, and enteropathy, X-linked
  • immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked
  • IPEX
  • X-linked autoimmunity-allergic dysregulation syndrome
  • XLAAD
  • XPID
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. (2)
References
Ontology
Human Disease   ( DOID:0090110 )
Relationships
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Genes Involved
Zebrafish Models