Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B03d981b3df6621cc65b31287d29a8c7a> ?p ?o ?g. }
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- B03d981b3df6621cc65b31287d29a8c7a hasDbXref "NCIT:C39577" @default.
- B03d981b3df6621cc65b31287d29a8c7a type Axiom @default.
- B03d981b3df6621cc65b31287d29a8c7a annotatedProperty IAO_0000115 @default.
- B03d981b3df6621cc65b31287d29a8c7a annotatedSource MONDO_8000023 @default.
- B03d981b3df6621cc65b31287d29a8c7a annotatedTarget "A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma." @default.