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- B19e35ed5d375013bb9980941acef74c0 NCIT_P378 "NCI" @default.
- B19e35ed5d375013bb9980941acef74c0 type Axiom @default.
- B19e35ed5d375013bb9980941acef74c0 annotatedProperty IAO_0000115 @default.
- B19e35ed5d375013bb9980941acef74c0 annotatedSource NCIT_C176703 @default.
- B19e35ed5d375013bb9980941acef74c0 annotatedTarget "An autosomal dominant condition caused by mutation(s) in the PIK3R1 gene, encoding phosphatidylinositol 3-kinase regulatory subunit alpha. It is characterized by a heterogenous phenotype, including recurrent respiratory infections, lymphoproliferation, and antibody deficiency. There is an increased likelihood of development of B-cell lymphoma." @default.