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- B41d272399eee1d1ada0b46174a541f77 NCIT_P378 "NICHD" @default.
- B41d272399eee1d1ada0b46174a541f77 type Axiom @default.
- B41d272399eee1d1ada0b46174a541f77 annotatedProperty NCIT_P325 @default.
- B41d272399eee1d1ada0b46174a541f77 annotatedSource NCIT_C84890 @default.
- B41d272399eee1d1ada0b46174a541f77 annotatedTarget "An autoinflammatory disease caused by mutations in the mevalonate kinase (MVK) gene leading to partial deficiency. It is characterized by attacks of inflammation with fever, rash, lymphadenopathy, splenomegaly and serositis along with increased acute phase reactants. Some patients exhibit elevations in immunoglobulin D (hyperimmunoglobulin D). This disease is distinct from mevalonic aciduria caused by complete deficiency of MVK." @default.