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- Bed50b4505f258171f90634b3d5e1fc5a NCIT_P378 "NCI" @default.
- Bed50b4505f258171f90634b3d5e1fc5a type Axiom @default.
- Bed50b4505f258171f90634b3d5e1fc5a annotatedProperty IAO_0000115 @default.
- Bed50b4505f258171f90634b3d5e1fc5a annotatedSource NCIT_C75109 @default.
- Bed50b4505f258171f90634b3d5e1fc5a annotatedTarget "A rare autosomal dominant syndrome caused by mutations in the TRPS1 gene. It is characterized by distinctive facial appearance (sparse hair, pear-shaped nose, and elongated philtrum), skeletal abnormalities (cone-shaped epiphyses, hip malformation), short stature, and mild growth retardation." @default.