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- Bdd396b00686334e3cb8d193e5d3a97ff NCIT_P378 "NCI" @default.
- Bdd396b00686334e3cb8d193e5d3a97ff type Axiom @default.
- Bdd396b00686334e3cb8d193e5d3a97ff annotatedProperty IAO_0000115 @default.
- Bdd396b00686334e3cb8d193e5d3a97ff annotatedSource NCIT_C84610 @default.
- Bdd396b00686334e3cb8d193e5d3a97ff 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.