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대설증
 Macroglossia
 
Madelung disease
 Madelung disease
 
마푸치 증후군
 Maffucci syndrome
 
Mal de debarquement
 Mal de debarquement
 
악성 위축성 구진증
 Malignant atrophic papulosis
 
악성 고열
 Malignant hyperthermia
 
단풍당밀뇨병
 Maple syrup urine disease
 
마르쿠스-건 증후군
 Marcus-Gunn syndrome
 
Marden-Walker 증후군
 Marden-Walker syndrome
 
마르팡 증후군
 Marfan’s syndrome
 
Marinesco-Sjögren 증후군
 Marinesco-Sjögren syndrome
 
Marshall-Smith 증후군
 Marshall-Smith syndrome
 
May-Hegglin thrombocytopenia
 May-Hegglin thrombocytopenia
 
멕켈 증후군
 Meckel syndrome
 
종격 섬유증
 Mediastinal fibrosis
 
Medium chain acyl-CoA dehydrogenase deficiency
 Medium chain acyl-CoA dehydrogenase deficiency
 
수질 해면 신장
 Medullary sponge kidney
 
MELAS 증후군
 MELAS syndrome
 
멜커슨 로젠탈 증후군
 Melkersson-Rosenthal syndrome
 
유선상 과골증
 Melorheostosis
 
Membranoproliferative glomerulonephritis type 2
 Membranoproliferative glomerulonephritis type 2
 
메네트리에 병
 Menetrier's disease
 
메니에르 병
 Meniere disease
 
멘케스병
 Menkes disease
 
MERRF 증후군
 MERRF syndrome
 
이염색백색질장애
 Metachromatic leukodystrophy
 
Metaphyseal chondrodysplasia, Jansen type
 Metaphyseal chondrodysplasia, Jansen type
 
Metaphyseal chondrodysplasia, Schmid type
 Metaphyseal chondrodysplasia, Schmid type
 
Metatropic dysplasia
 Metatropic dysplasia
 
메탄말소닌산혈증
 Methylmalonic acidemia
 
Methylmalonic acidemia - homocystinuria
 Methylmalonic acidemia - homocystinuria
 
Midface retraction syndrome, Schinzel-Giedion type
 Midface retraction syndrome, Schinzel-Giedion type
 
Miller-Dieker 증후군
 Miller-Dieker syndrome
 
혼합 결합 조직병
 Mixed connective tissue disease
 
Miyoshi myopathy
 Miyoshi myopathy
 
MODY 증후군
 MODY syndrome
 
뫼비우스 증후군
 Moebius syndrome
 
Mohr-Tranebjaerg 증후군
 Mohr-Tranebjaerg syndrome
 
염주털(증)
 Monilethrix
 
Monomelic amyotrophy
 Monomelic amyotrophy
 
Monosomy 18p
 Monosomy 18p
 
모야모야 병
 Moyamoya disease
 
뮤코리피드증 II
 Mucolipidosis II (I-cell disease)
 
뮤코리피드증(제3형)
 Mucolipidosis type 3
 
I형 점액다당질증
 Mucopolysaccharidosis, type I
 
II형 점액다당질증
 Mucopolysaccharidosis, type II
 
III형 점액다당질증
 Mucopolysaccharidosis, type III
 
IV형 점액다당질증
 Mucopolysaccharidosis, type IV
 
VI형 점액다당질증
 Mucopolysaccharidosis, type VI
 
VII형 점액다당질증
 Mucopolysaccharidosis, type VII
 
Muenke 증후군
 Muenke syndrome
 
Mullerian aplasia
 Mullerian aplasia
 
다핵/미세핵 병
 multiminicore myopathy
 
Multiple carboxylase deficiency, due to biotinidase deficiency
 Multiple carboxylase deficiency, due to biotinidase deficiency
 
다발 선천 뼈돌출증
 Multiple congenital exostoses
 
Multiple endocrine neoplasia type 1
 Multiple endocrine neoplasia type 1
 
Multiple endocrine neoplasia type 2
 Multiple endocrine neoplasia type 2
 
다발성 골단이형성증
 Multiple epiphyseal dysplasia
 
다발성 골단이형성증 (제4형)
 Multiple epiphyseal dysplasia type 4
 
다발 골수종
 Multiple myeloma
 
다발성 경화증
 Multiple sclerosis
 
Multiple system atrophy
 Multiple system atrophy
 
Myalgia-eosinophilia syndrome associated with tryptophan
 Myalgia-eosinophilia syndrome associated with tryptophan
 
중증 근 무력 증
 Myasthenia gravis
 
골수 형성이상 증후군
 Myelodysplastic syndromes
 
골수양화생골수섬유증
 Myelofibrosis with myeloid metaplasia
 
Myoclonic dystonia
 Myoclonic dystonia
 
근육긴장퇴행위축
 Myotonic dystrophy