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About Rare Diseases
罕病小百科
Rare Disease Wiki
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The information is for reference only and not exhaustive. It is not intended to be a substitute for professional medical advice.
Congenital Insensitivity to Pain with Anhidrosis (CIPA) (先天性痛覺不敏感症合併無汗症)
Cushing's Syndrome 庫欣氏症候群(CN)
Ehlers-Danlos Syndrome (EDS) (埃勒斯-當洛二氏症)
Epidermolysis Bullosa (EB) (表皮溶解水皰症)
Facioscapulohumeral Muscular Dystrophy (FSHD) (面肩肱型肌肉營養不良症)
Glioblastoma Multiforme (GBM) (多形性膠質母細胞瘤)
Glycogen Storage Disease Type Ia (GSD Ia) (肝醣儲積症第1a型)
Glycogen Storage Disease Type VI (GSD VI) (肝醣儲積症第六型)
Kennedy's Disease (甘迺迪氏症)
Mesothelioma (間皮瘤)
Mitochondrial Cardiomyopathy (MCM) (線粒體心肌病變)
Osteogenesis Imperfecta (OI) (成骨不全症)
Pemphigus Vulgaris (天皰瘡)
Phenylketonuria (PKU) (苯丙酮尿症)
Prader-Willi Syndrome (PWS) (普瑞德威利症候群)
Spinocerebellar Ataxia Type 3 (SCA3) (小腦萎縮症第三型)
Stiff Person Syndrome (SPS) (僵硬人症候群)
Williams Syndrome (WS) (威廉斯氏綜合症)
Wilson's Disease (WD) (威爾遜氏症)
Xeroderma Pigmentosum (XP) (著色性乾皮症)
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