RARE DISEASE HONG KONG

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About Rare Diseases罕病小百科

Rare Disease Wiki

ALL 2 A B C D E F G H I J K M N O P R S T U V W X

The information is for reference only and not exhaustive. It is not intended to be a substitute for professional medical advice.

Osteogenesis Imperfecta (OI) (成骨不全症)

Paroxysmal Nocturnal Hemoglobinuria (PNH) (陣發性夜間血紅素尿症)

Pemphigus Vulgaris (天皰瘡)

Phenylketonuria (PKU) (苯丙酮尿症)

Pompe Disease (龐貝氏症) / Glycogen Storage Disease (GSD) - Type 2 (肝醣儲積症第2型)

Prader-Willi Syndrome (PWS) (普瑞德威利症候群)

Progressive Fibrosing Interstitial Lung Disease 惡化性間質性肺病

Pulmonary Arterial Hypertension (PAH) (肺動脈高壓)

Rett Syndrome (RTT) (雷特氏症)

Rubinstein-Tabyi Syndrome (RTS) (Rubinstein-Taybi症候群)

Russell-Silver Syndrome (RSS) (羅素-西弗氏症)

Spinocerebellar Ataxia Type 3 (SCA3) (小腦萎縮症第三型)

Spondyloepiphyseal Dysplasia Congenita (SEDC) (先天性脊椎骨骺發育不全症)

Stiff Person Syndrome (SPS) (僵硬人症候群)

Succinic Semialdehyde Dehydrogenase Deficiency (SSADH) (琥珀酸半醛脱氫酶缺乏症)

Supernumerary Chromosome 8 Syndrome (Genetic Disorder)

Takayasu Arteritis (TA) (高安氏症)

Tuberous Sclerosis Complex (TSC) (結節性硬化症)

Usher Syndrome (尤塞氏綜合症)

von Hippel–Lindau (VHL) Disease (希佩爾-林道病)

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