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- B2e3bce68b4b03ad66811a7f8ff5ac5c4 NCIT_P378 "NICHD" @default.
- B2e3bce68b4b03ad66811a7f8ff5ac5c4 type Axiom @default.
- B2e3bce68b4b03ad66811a7f8ff5ac5c4 annotatedProperty NCIT_P325 @default.
- B2e3bce68b4b03ad66811a7f8ff5ac5c4 annotatedSource NCIT_C3040 @default.
- B2e3bce68b4b03ad66811a7f8ff5ac5c4 annotatedTarget "An autosomal recessive disorder of connective tissue caused by mutation(s) in the ACVR1 gene, encoding activin receptor type-1. This condition is characterized by congenital malformations of the great toes and progressive ossification of skeletal muscle, fascia, tendons, and ligaments." @default.