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- Ba8cabac09f423dd978ae313cd5d1b9c1 hasDbXref "Orphanet:760" @default.
- Ba8cabac09f423dd978ae313cd5d1b9c1 type Axiom @default.
- Ba8cabac09f423dd978ae313cd5d1b9c1 annotatedProperty IAO_0000115 @default.
- Ba8cabac09f423dd978ae313cd5d1b9c1 annotatedSource MONDO_0013171 @default.
- Ba8cabac09f423dd978ae313cd5d1b9c1 annotatedTarget "Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations." @default.