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- B882d705d43e691694690e6ed786d0d4d hasDbXref "Orphanet:263463" @default.
- B882d705d43e691694690e6ed786d0d4d type Axiom @default.
- B882d705d43e691694690e6ed786d0d4d annotatedProperty IAO_0000115 @default.
- B882d705d43e691694690e6ed786d0d4d annotatedSource MONDO_0007738 @default.
- B882d705d43e691694690e6ed786d0d4d 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.