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손발톱-슬개골 증후군
 Nail-patella syndrome
 
발작성 수면 및 탈력 발작
 Narcolepsy-cataplexy
 
넬슨 증후군
 Nelson`s syndrome
 
네말린 근병증
 Nemaline myopathy
 
신장모세포종
 Nephroblastoma
 
콩팥(신장 성) 요붕증
 Nephrogenic diabetes insipidus
 
Netherton 병
 Netherton disease
 
Neuroacanthocytosis
 Neuroacanthocytosis
 
Neurodegeneration with brain iron accumulation
 Neurodegeneration with brain iron accumulation
 
제1형 신경섬유종증
 Neurofibromatosis type 1
 
제2형 신경섬유종증
 Neurofibromatosis type 2
 
신경이완제 악성 증후군
 Neuroleptic malignant syndrome
 
시신경척수염
 Neuromyelitis optica
 
신경 세로이드 리포푸신증
 Neuronal ceroid lipofuscinosis
 
니만-피크 병
 Niemann-Pick`s disease
 
비케톤성 고글라이신혈증
 Non ketotic hyperglycinemia
 
Non rare thrombophilia
 Non rare thrombophilia
 
Nonsyndromic hearing loss, autosomal dominant (DFNA)
 Nonsyndromic hearing loss, autosomal dominant (DFNA)
 
Nonsyndromic hearing loss, autosomal recessive (DFNB)
 Nonsyndromic hearing loss, autosomal recessive (DFNB)
 
Nonsyndromic hearing loss, mitochondrial
 Nonsyndromic hearing loss, mitochondrial
 
누난 증후군
 Noonan syndrome
 
노리 병
 Norrie disease