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Spondyloepimetaphyseal dysplasia, Missouri type
ORPHA:93356 · Disease · Disorder
HPO 表現型（共 12 項）
Frequent (79-30%)(12)
- Disproportionate short statureHP:0003498
- Femoral bowingHP:0002980
- Flared metaphysisHP:0003015
- Flattened epiphysisHP:0003071
- Genu varumHP:0002970
- Knee osteoarthritisHP:0005086
- Metaphyseal irregularityHP:0003025
- Pear-shaped vertebraeHP:0004566
- Short lower limbsHP:0006385
- Small epiphysesHP:0010585
- Thick growth platesHP:0025369
- Tibial bowingHP:0002982