Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B8811cf44fc9a37cf23e8dafa27e23be6> ?p ?o ?g. }
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- B8811cf44fc9a37cf23e8dafa27e23be6 hasDbXref "Orphanet:760" @default.
- B8811cf44fc9a37cf23e8dafa27e23be6 type Axiom @default.
- B8811cf44fc9a37cf23e8dafa27e23be6 annotatedProperty IAO_0000115 @default.
- B8811cf44fc9a37cf23e8dafa27e23be6 annotatedSource MONDO_0013171 @default.
- B8811cf44fc9a37cf23e8dafa27e23be6 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.