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- B96cc622758159a17f5c725d5aefe4466 hasDbXref "OMIM:301082" @default.
- B96cc622758159a17f5c725d5aefe4466 hasDbXref "PMID:33876203" @default.
- B96cc622758159a17f5c725d5aefe4466 hasDbXref "https://orcid.org/0000-0002-7371-8158" @default.
- B96cc622758159a17f5c725d5aefe4466 hasDbXref "https://orcid.org/0000-0003-0113-912X" @default.
- B96cc622758159a17f5c725d5aefe4466 type Axiom @default.
- B96cc622758159a17f5c725d5aefe4466 annotatedProperty IAO_0000115 @default.
- B96cc622758159a17f5c725d5aefe4466 annotatedSource MONDO_0024781 @default.
- B96cc622758159a17f5c725d5aefe4466 annotatedTarget "An X-linked recessive immunologic disorder characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. Laboratory studies show defective T-cell proliferation and function, likely due to signaling abnormalities. The disorder may also manifest as a hyperinflammatory state with immune dysregulation." @default.