- 轻松订阅最新动态（简易法） (0篇回复)
- 第一批罕见病目录 (0篇回复)
- X-连锁淋巴增生症 X-linked Lymphoproliferative Disease (0篇回复)
- X-连锁肾上腺脑白质营养不良 X-linked Adrenoleukodystrophy (0篇回复)
- X-连锁无丙种球蛋白血症 X-linked Agammaglobulinemia (0篇回复)
- 湿疹血小板减少伴免疫缺陷综合征 Wiskott-Aldrich Syndrome (0篇回复)
- 威廉姆斯综合征 Williams Syndrome (0篇回复)
- 极长链酰基辅酶A脱氢酶缺乏症 Very Long Chain Acyl-CoA Dehydrogenase Deficiency (0篇回复)
- 原发性酪氨酸血症 Tyrosinemia (0篇回复)
- 结节性硬化症 Tuberous Sclerosis Complex (0篇回复)
- 四氢生物蝶呤缺乏症 Tetrahydrobiopterin Deficiency (0篇回复)
- 系统性硬化症 Systemic Sclerosis (0篇回复)
- 脊髓小脑性共济失调 Spinocerebellar Ataxia (0篇回复)
- 脊髓性肌萎缩症 Spinal Muscular Atrophy (0篇回复)
- 脊髓延髓肌萎缩症（肯尼迪病） Spinal and Bulbar Muscular Atrophy (0篇回复)
- 谷固醇血症 Sitosterolemia (0篇回复)
- Silver-Russell综合征 Silver-Russell Syndrome (0篇回复)
- 镰刀型细胞贫血病 Sickle Cell Disease (0篇回复)
- 婴儿严重肌阵挛性癫痫(Dravet综合征) Severe Myoclonic Epilepsy in Infancy (0篇回复)
- 重症先天性粒细胞缺乏症 Severe Congenital Neutropenia (0篇回复)
- 视网膜母细胞瘤 Retinoblastoma (0篇回复)
- 视网膜色素变性 Retinitis Pigmentosa (0篇回复)
- 肺泡蛋白沉积症 Pulmonary Alveolar Proteinosis (0篇回复)
- 肌营养不良症Muscular dystrophy (0篇回复)
- 进行性家族性肝内胆汁淤积症 Progressive Familial Intrahepatic Cholestasis (0篇回复)
- Prader-Willi综合征 Prader-Willi Syndrome (0篇回复)
- 卟啉病 Porphyria (0篇回复)
- POEMS综合征 POEMS Syndrome (0篇回复)
- 丙酸血症 Propionic Acidemia (0篇回复)
- 苯丙酮尿症 Phenylketonuria (0篇回复)
- 黑斑息肉综合征 Peutz-Jeghers Syndrome (0篇回复)
- 阵发性睡眠性血红蛋白尿 Paroxysmal Nocturnal Hemoglobinuria (0篇回复)
- 帕金森病（青年型、早发型） Parkinson Disease (Young-onset , Early-onset) (0篇回复)
- 成骨不全症（脆骨病） Osteogenesis Imperfecta (Brittle Bone Disease) (0篇回复)
- 鸟氨酸氨甲酰基转移酶缺乏症 Ornithine Transcarbamylase Deficiency (0篇回复)
- Noonan综合征 Noonan Syndrome (0篇回复)
- 非综合征性耳聋 Non-Syndromic Deafness (0篇回复)
- 尼曼匹克病 Niemann-Pick Disease (0篇回复)
- 视神经脊髓炎 Neuromyelitis Optica (0篇回复)
- 新生儿糖尿病 Neonatal Diabetes Mellitus (0篇回复)
- N-乙酰谷氨酸合成酶缺乏症 N-acetylglutamate Synthase Deficiency (0篇回复)
- 肌强直性营养不良 Myotonic Dystrophy (0篇回复)
- 多系统萎缩 Multiple System Atrophy (0篇回复)
- 多发性硬化 Multiple Sclerosis (0篇回复)
- 多灶性运动神经病 Multifocal Motor Neuropathy (0篇回复)
- 黏多糖贮积症 Mucopolysaccharidosis (0篇回复)
- 中链酰基辅酶A脱氢酶缺乏症 Medium Chain Acyl-CoA Dehydrogenase Deficiency (0篇回复)
- McCune-Albrigh综合征 McCune-Albright Syndrome (0篇回复)
- 马凡综合征 Marfan Syndrome (0篇回复)
- 马凡综合征 Marfan Syndrome (0篇回复)
- 枫糖尿症 Maple Syrup Urine Disease (0篇回复)
- 溶酶体酸性脂肪酶缺乏症 Lysosomal Acid Lipase Deficiency (0篇回复)
- 赖氨酸尿蛋白不耐受症 Lysinuric Protein Intolerance (0篇回复)