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Spondyloepiphyseal dysplasia, Kimberley type
ORPHA:93283 · Disease · Disorder
HPO 表現型（共 7 項）
Very frequent (99-80%)(7)
- Abnormal epiphysis morphologyHP:0005930
- MicromeliaHP:0002983
- OsteoarthritisHP:0002758
- PlatyspondylyHP:0000926
- Proportionate short statureHP:0003508
- Short thoraxHP:0010306
- Spondyloepiphyseal dysplasiaHP:0002655