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- Bd74ccd03762da68e975ff3fe29a05ab6 NCIT_P378 "NICHD" @default.
- Bd74ccd03762da68e975ff3fe29a05ab6 type Axiom @default.
- Bd74ccd03762da68e975ff3fe29a05ab6 annotatedProperty NCIT_P325 @default.
- Bd74ccd03762da68e975ff3fe29a05ab6 annotatedSource NCIT_C84890 @default.
- Bd74ccd03762da68e975ff3fe29a05ab6 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.