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- Baee4460389c2bc8f0ca109b63ecaa840 hasDbXref "OMIM:301081" @default.
- Baee4460389c2bc8f0ca109b63ecaa840 type Axiom @default.
- Baee4460389c2bc8f0ca109b63ecaa840 annotatedProperty IAO_0000115 @default.
- Baee4460389c2bc8f0ca109b63ecaa840 annotatedSource MONDO_0800129 @default.
- Baee4460389c2bc8f0ca109b63ecaa840 annotatedTarget "An autoinflammatory syndrome characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy." @default.