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periodic fever-infantile enterocolitis-autoinflammatory syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description An autosomal dominant disorder characterized by neonatal-onset enterocolitis, periodic fever, and fatal or near-fatal episodes of autoinflammation. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy, recurrent febrile episodes with splenomegaly, and sometimes hematologic disturbances, arthralgias, or myalgias.
Mondo Term and Equivalent IDs
MONDO:0014472:  periodic fever-infantile enterocolitis-autoinflammatory syndrome
Orphanet:436166: 
UMLS:C4015067: