Term Name: | immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome |
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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. |
Ontology: | Human Disease [DOID:0090110] ( DOID:0090110 ) |