Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B0f73e388a7a6e6865d5c8e64a2c34b23> ?p ?o ?g. }
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- B0f73e388a7a6e6865d5c8e64a2c34b23 hasDbXref "OMIM:301081" @default.
- B0f73e388a7a6e6865d5c8e64a2c34b23 type Axiom @default.
- B0f73e388a7a6e6865d5c8e64a2c34b23 annotatedProperty IAO_0000115 @default.
- B0f73e388a7a6e6865d5c8e64a2c34b23 annotatedSource MONDO_0800129 @default.
- B0f73e388a7a6e6865d5c8e64a2c34b23 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.