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- B9f95610e50170544ef1a9b556ff40357 hasDbXref "Orphanet:263463" @default.
- B9f95610e50170544ef1a9b556ff40357 type Axiom @default.
- B9f95610e50170544ef1a9b556ff40357 annotatedProperty IAO_0000115 @default.
- B9f95610e50170544ef1a9b556ff40357 annotatedSource MONDO_0007738 @default.
- B9f95610e50170544ef1a9b556ff40357 annotatedTarget "CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal." @default.