PHOX2B : Congenital central hypoventilation syndrome
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Propionic acidemia (프로피온산혈증)
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Peutz-Jeghers syndrome (포이츠-제거스 증후군)
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Prader-Willi syndrome (프라더윌리 증후군)
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PHHI (Persistent hyperinsulinemic hypoglycemia of infancy)
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OTC deficiency (OTC 결핍증)
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Phenylketonuria (페닐케톤뇨증)
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Nephronophthisis (콩팥황폐증)
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Nephrogenic DI (신성뇨붕증)
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Neurofibromatosis (신경섬유종증)
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