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- B52b796c93fc960ebb2fa7aedb9a255f2 NCIT_P378 "NCI" @default.
- B52b796c93fc960ebb2fa7aedb9a255f2 type Axiom @default.
- B52b796c93fc960ebb2fa7aedb9a255f2 annotatedProperty IAO_0000115 @default.
- B52b796c93fc960ebb2fa7aedb9a255f2 annotatedSource NCIT_C3962 @default.
- B52b796c93fc960ebb2fa7aedb9a255f2 annotatedTarget "An autosomal recessive deficiency of the purine salvage enzyme adenosine deaminase which results in Severe Combined Immunodeficiency Disease (SCID). The most common form of SCID, accounting for about 50% of autosomal recessive cases. The first disease for which gene therapy was applied." @default.