香港罕見疾病聯盟

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關於罕見疾病罕病小百科

罕病小百科

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

Achondroplasia (軟骨發育不全症)

Acromegaly (肢端肥大症)

Alstrome Syndrome (AS) (阿爾斯特倫綜合症)

Amyotrophic Lateral Sclerosis (ALS) (肌萎縮性脊髓側索硬化症)

Angelman Syndrome (AS) (天使綜合症)

Aplastic Anemia (AA) (再生不良性貧血症)

Atypical Hemolytic Uremic Syndrome (aHUS) (非典型性尿毒溶血症候群)

Behcet's Disease (BD) (貝賽特氏症)

Burning Mouth Syndrome (BMS) (口腔灼熱症候群)

Cardiofaciocutaneous Syndrome (CFC) (CFC症侯群)

Crohn's Disease (CD) (克隆氏症)

Charcot-Marie-Tooth Disease (CMT) (進行性神經性腓骨肌萎縮症)

DiGeorge Syndrome (DGS) (迪喬治症候群)

Classical Hodgkin Lymphoma (典型霍奇金淋巴瘤)

Jacobsen Syndrome (JS) (雅各森症候群)

Mitochondrial Disease (線粒體疾病)

Cone-rod Dystrophy (CRD) (錐-桿狀細胞營養不良症)

Microsatellite Instability-High (MSI-H) (高度微衛星不穩定性) / Mismatch Repair Deficient (dMMR) Cancers (錯配修復功能缺陷癌症)

Multiple Epiphyseal Dysplasia (MED) (多發性骨骺發育不全症)

Congenital Glaucoma (先天性青光眼)

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