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아르스코그 증후군
 Aarskog syndrome
 
연골무발생증
 Achondrogenesis
 
연골무형성증
 Achondroplasia
 
Acquired aplastic anemia
 Acquired aplastic anemia
 
뾰족머리손발가락붙음증
 Acrocephalosyndactyly
 
Acrodysostosis
 Acrodysostosis
 
Acrofacial dysostosis, Nager type
 Acrofacial dysostosis, Nager type
 
선단노화증
 Acrogeria
 
말단거대증
 Acromegaly
 
Acromesomelic dysplasia
 Acromesomelic dysplasia
 
Acroosteolysis dominant type
 Acroosteolysis dominant type
 
급성 간헐 포르피린증
 Acute intermittent porphyria
 
급성 횡단 척수염
 Acute transverse myelitis
 
Adams-Oliver 증후군
 Adams-Oliver syndrome
 
아디슨 병
 Addison`s disease
 
Adult polyglucosan body disease
 Adult polyglucosan body disease
 
연령관련황반변성
 Age-related macular degeneration
 
무설증
 Aglossia
 
에카르디 증후군
 Aicardi syndrome
 
Alagille 증후군
 Alagille syndrome
 
알베르스-쇤베르그 증후군
 Albers-Schonberg syndrome
 
Albright hereditary osteodystrophy
 Albright hereditary osteodystrophy
 
알브라이트(-맥쿤)(-스턴버그) 증후군
 Albright(-McCune)(-Sternberg) syndrome
 
알렉산더 병
 Alexander disease
 
알캅톤뇨증
 Alkaptonuria
 
Alpers 증후군
 Alpers syndrome
 
Alpha thalassemia
 Alpha thalassemia
 
알포트 증후군
 Alport syndrome
 
알스트룀 증후군
 Alström syndrome
 
Alternating hemiplegia of childhood
 Alternating hemiplegia of childhood
 
Amniotic bands
 Amniotic bands
 
아밀로이드증
 Amyloidosis
 
근육위축가쪽경화증
 Amyotrophic lateral sclerosis
 
무뇌증
 Anencephaly
 
엔젤만 증후군
 Angelman syndrome
 
무홍채증
 Aniridia
 
강직성 척추염
 Ankylosing spondylitis
 
무치아(증)
 Anodontia
 
항문직장 기형
 Anorectal malformation
 
항인지질 증후군
 Antiphospholipid syndrome
 
앤틀리-빅슬러 증후군
 Antley-Bixler syndrome
 
Aortic aneurysm syndrome, Loeys-Dietz type
 Aortic aneurysm syndrome, Loeys-Dietz type
 
대동맥 활 증후군(다까야수)
 Aortic arch syndrome(Takayasu)
 
아페르 증후군
 Apert syndrome
 
Aplasia cutis congenita - intestinal lymphangiectasia
 Aplasia cutis congenita - intestinal lymphangiectasia
 
지주막염
 Arachnoiditis
 
아놀드-키아리 증후군
 Arnold-Chiari syndrome
 
동정맥 기형
 Arteriovenous malformation
 
Arthrogryposis - renal dysfunction - cholestasis
 Arthrogryposis - renal dysfunction - cholestasis
 
선천 다발관절 굽음증
 Arthrogryposis multiplex congenita
 
아스퍼거 증후군
 Asperger syndrome
 
질식성 가슴 형성이상[쥐느]
 Asphyxiating thoracic dysplasia [Jeune]
 
별아교세포종
 Astrocytoma
 
모세혈관 확장 성 운동실조
 ataxia-telangiectasia
 
Atresia of small intestine
 Atresia of small intestine
 
Atypical Rett syndrome
 Atypical Rett syndrome
 
Autoimmune hemolytic anemia, cold type
 Autoimmune hemolytic anemia, cold type
 
Autosomal dominant Charcot-Marie-Tooth disease type 2C
 Autosomal dominant Charcot-Marie-Tooth disease type 2C
 
Autosomal dominant congenital benign spinal muscular atrophy
 Autosomal dominant congenital benign spinal muscular atrophy
 
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
 Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
 
Autosomal dominant optic atrophy, classic type
 Autosomal dominant optic atrophy, classic type
 
상염색체 우성 다낭성 신 증후군
 Autosomal dominant polycystic kidney disease
 
Autosomal recessive hyper IgE 증후군
 Autosomal recessive hyper IgE syndrome
 
상염색체 열성 다낭성 신 증후군
 Autosomal recessive polycystic kidney disease
 
Autosomal recessive spondylocostal dysostosis
 Autosomal recessive spondylocostal dysostosis