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DOID:0090110 - immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Disease Ontology Definition:A hypersensitivity reaction type II disease characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has material_basis_in mutation in the FOXP3 gene on chromosome Xp11.
Synonyms: X-linked autoimmunity-allergic dysregulation syndrome, autoimmunity-immunodeficiency syndrome, X-linked, Autoimmune enteropathy type 1, DMSD, IDDM-secretory diarrhea syndrome, IPEX, XLAAD, XPID, 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,
Xenbase Genes
:
foxp3
| MONDO:0010580 - immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
hypersensitivity reaction disease (is_a)