Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B2428016ef98eec63e2f570d18a6d1edc> ?p ?o ?g. }
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- B2428016ef98eec63e2f570d18a6d1edc hasDbXref "OMIM:301078" @default.
- B2428016ef98eec63e2f570d18a6d1edc hasDbXref "PMID:33512449" @default.
- B2428016ef98eec63e2f570d18a6d1edc hasDbXref "PMID:34981838" @default.
- B2428016ef98eec63e2f570d18a6d1edc hasDbXref "https://orcid.org/0000-0002-7371-8158" @default.
- B2428016ef98eec63e2f570d18a6d1edc hasDbXref "https://orcid.org/0000-0003-0113-912X" @default.
- B2428016ef98eec63e2f570d18a6d1edc type Axiom @default.
- B2428016ef98eec63e2f570d18a6d1edc annotatedProperty IAO_0000115 @default.
- B2428016ef98eec63e2f570d18a6d1edc annotatedSource MONDO_0024777 @default.
- B2428016ef98eec63e2f570d18a6d1edc annotatedTarget "An immunodeficiency disease characterized by onset of recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life. Mostly males are affected; carrier females may have mild symptoms. Laboratory studies show evidence of immune dysregulation, including hypogammaglobulinemia with reduced memory B cells, skewed T-cell subsets, increased levels of proinflammatory cytokines, activated T cells and monocytes, and autoimmune cytopenias, including neutropenia." @default.