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- B70faf51e1625dbb5b5d138d5ecc604cc NCIT_P378 "NCI" @default.
- B70faf51e1625dbb5b5d138d5ecc604cc type Axiom @default.
- B70faf51e1625dbb5b5d138d5ecc604cc annotatedProperty IAO_0000115 @default.
- B70faf51e1625dbb5b5d138d5ecc604cc annotatedSource NCIT_C126743 @default.
- B70faf51e1625dbb5b5d138d5ecc604cc annotatedTarget "An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life." @default.