| Metadata | |
|---|---|
| ID | DOID:0090110 |
| Name | immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome |
| 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. https://ghr.nlm.nih.gov/condition/immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome, https://www.omim.org/entry/304790 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| 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] IDDM-secretory diarrhea syndrome [EXACT] immunodeficiency, polyendocrinopathy, and enteropathy, X-linked [EXACT] immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked [EXACT] IPEX [EXACT] X-linked autoimmunity-allergic dysregulation syndrome [EXACT] XLAAD [EXACT] XPID [EXACT] |
| Parent Relationships |
is_a autoimmune disease |