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ARC syndrome (Arthrogryposis, Renal dysfunction, Cholestasis)
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Chronic granulomatous disease (CGD; 만성육아종병)
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Campomelic dysplasia (굴지 형성이상)
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Androgen insensitivity syndrome (AIS; 안드로겐( 남성호르몬) 불감성 증후군)
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Achondroplasia (연골무형성증)
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CADASIL (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; 카다실; 유전성 다발경색치매)
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Atypical phenylketonuria (PTPS 결핍증; PTS결핍증; 비정형성 페닐케톤뇨증)
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Angelman syndrome (엔젤만증후군)
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Aminoglycoside induced deafness (아미노글리코사이드 항생제 유발성 난청)
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Congenital adrenal hypoplasia (선천성부신저형성증)
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