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DOID:0090110 - immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Disease Ontology 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.
Synonyms: Autoimmune enteropathy type 1, autoimmunity-immunodeficiency syndrome, X-linked, 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, XLAAD, X-linked autoimmunity-allergic dysregulation syndrome, X-linked autoimmunity-allergic dysregulation syndrome, XPID
Xenbase Genes
:
foxp3
| MONDO:0010580 - pedal digit 1 phalanx pre-cartilage condensation |
| MIM:304790 - IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED; IPEX |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autoimmune disease (is_a),
hypersensitivity reaction disease (is_a),
X-linked recessive disease (is_a)