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Neonatal severe primary hyperparathyroidism
ORPHA:417 · Disease · Disorder
HPO 表現型（共 10 項）
Very frequent (99-80%)(10)
- Abnormal circulating calcium-phosphate regulating hormone concentrationHP:0100530
- Abnormal metaphysis morphologyHP:0000944
- Abnormality of the thyroid glandHP:0000820
- AminoaciduriaHP:0003355
- HepatomegalyHP:0002240
- HypotoniaHP:0001252
- Narrow chestHP:0000774
- Recurrent fracturesHP:0002757
- Short statureHP:0004322
- SplenomegalyHP:0001744