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Mucopolysaccharidoses (MPS) - Type 2 (黏多醣症第2型)
Mucopolysaccharidoses (MPS) - Type 3 (黏多醣症第3型)
Mucopolysaccharidoses (MPS) - Type 4A (黏多醣症第4A型)
Mucopolysaccharidoses (MPS) - Type 6 (黏多醣症第6型)
Neurofibromatosis (NF) - Type 1 (神經纖維瘤第1型)
Multiple System Atrophy (MSA) - Pakinsonian Subtype (多重系統退化症-非典型巴金森症)
Nemaline Myopathy (桿狀體肌肉病變)
Neuromyelitis Optica (NMO) (視神經脊髓炎)
Nicolaides-Baraitser Syndrome (NCBRS) (Nicolaides-Baraitser綜合症)
Non-infectious non-anterior (NINA) Uveitis 非感染性非前段 (NINA) 葡萄膜炎
Paroxysmal Nocturnal Hemoglobinuria (PNH) (陣發性夜間血紅素尿症)
Pompe Disease (龐貝氏症) / Glycogen Storage Disease (GSD) - Type 2 (肝醣儲積症第2型)
Progressive Fibrosing Interstitial Lung Disease 惡化性間質性肺病
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)
Waardenburg Syndrome (WS) (瓦登伯革氏症侯群)
West Syndrome-Infantile Spasms (韋氏症-嬰兒痙攣症)
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