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STAT3-related early-onset multisystem autoimmune disease

Disease Summary
Associated Targets (1)
Tchem

1


Uniprot Description A disorder characterized by early childhood onset of a spectrum of autoimmune manifestations affecting multiple organs, including insulin-dependent diabetes mellitus and autoimmune enteropathy or celiac disease. Other features include short stature, non-specific dermatitis, hypothyroidism, autoimmune arthritis, and delayed puberty.
Mondo Term and Equivalent IDs
MONDO:0014414:  STAT3-related early-onset multisystem autoimmune disease
Orphanet:438159: 
UMLS:C4014795: