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immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.
Uniprot Description Characterized by neonatal onset insulin-dependent diabetes mellitus, infections, secretory diarrhea, thrombocytopenia, anemia and eczema. It is usually lethal in infancy.
Disease Ontology Description An autoimmune hypersensitivity 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.
Mondo Term and Equivalent IDs
MONDO:0010580:  immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
GARD:0001850: 
MESH:C580192: 
NCIT:C131009: 
Orphanet:37042: 
SCTID:237618001: