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- Bb47c54ad1ec70bc467fc3f0254a5535f hasDbXref "Orphanet:314795" @default.
- Bb47c54ad1ec70bc467fc3f0254a5535f type Axiom @default.
- Bb47c54ad1ec70bc467fc3f0254a5535f annotatedProperty IAO_0000115 @default.
- Bb47c54ad1ec70bc467fc3f0254a5535f annotatedSource MONDO_0010367 @default.
- Bb47c54ad1ec70bc467fc3f0254a5535f annotatedTarget "SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never." @default.