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Opsismodysplasia
ORPHA:2746 · Disease · Disorder
HPO 表現型（共 27 項）
Very frequent (99-80%)(17)
- Abnormal epiphysis morphologyHP:0005930
- Abnormal metaphysis morphologyHP:0000944
- Abnormally ossified vertebraeHP:0100569
- BrachydactylyHP:0001156
- Delayed skeletal maturationHP:0002750
- Depressed nasal bridgeHP:0005280
- Frontal bossingHP:0002007
- Hypoplastic ischiaHP:0003175
- Hypoplastic pubic boneHP:0003173
- Hypoplastic vertebral bodiesHP:0008479
- Large fontanellesHP:0000239
- MacrocephalyHP:0000256
- Respiratory insufficiencyHP:0002093
- Severe short statureHP:0003510
- Short noseHP:0003196
- Squared iliac bonesHP:0003177
- Tapered fingerHP:0001182
Frequent (79-30%)(3)
- Flat occiputHP:0005469
- HypotoniaHP:0001252
- Recurrent respiratory infectionsHP:0002205
Occasional (29-5%)(7)
- Blue scleraeHP:0000592
- Broad thumbHP:0011304
- HepatomegalyHP:0002240
- Joint stiffnessHP:0001387
- Narrow chestHP:0000774
- Pectus excavatumHP:0000767
- SplenomegalyHP:0001744