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- Bfdec624a6f1e17db1cbd7eddb11da9ff NCIT_P378 "NCI" @default.
- Bfdec624a6f1e17db1cbd7eddb11da9ff type Axiom @default.
- Bfdec624a6f1e17db1cbd7eddb11da9ff annotatedProperty IAO_0000115 @default.
- Bfdec624a6f1e17db1cbd7eddb11da9ff annotatedSource NCIT_C84610 @default.
- Bfdec624a6f1e17db1cbd7eddb11da9ff annotatedTarget "An autosomal dominant skeletal disorder caused by mutations in the TGFB1 gene. It is characterized by thickening of the bones, particularly the long bones of the extremities. It is associated with muscle weakness and tiredness." @default.