44 Lennox-Gastaut 綜合征 Lennox-Gastaut syndrome
45 角膜緣干細(xì)胞缺乏癥 Limbal stem cell deficiency
46 惡性高熱 Malignant hyperthermia
47 惡性胸膜間皮瘤 Malignant pleural mesothelioma
48 黑色素瘤 Melanoma
49 異染性腦白質(zhì)營養(yǎng)不良 Metachromatic leukodystrophy
50 單基因非綜合征性肥胖 Monogenic non-syndromic obesity
51 多發(fā)性內(nèi)分泌腺瘤病 Multiple endocrine neoplasia
52 發(fā)作性睡病 Narcolepsy
53 神經(jīng)母細(xì)胞瘤 Neuroblastoma
54 神經(jīng)纖維瘤病 Neurofibromatosis
55 神經(jīng)元蠟樣脂褐質(zhì)沉積癥 Neuronal ceroid lipofuscinosis
56 神經(jīng)營養(yǎng)性角膜炎 Neurotrophic keratitis
57 骨肉瘤 Osteosarcoma
58 天皰瘡 Pemphigus
59 新生兒持續(xù)肺動脈高壓 Persistent pulmonary hypertension of the newborn
60 嗜鉻細(xì)胞瘤 Pheochromocytoma
61 PIK3CA相關(guān)過度生長綜合征 PIK3CA related overgrowth syndrome
62 真性紅細(xì)胞增多癥 Polycythaemia vera
63 原發(fā)性膽汁性膽管炎 Primary biliary cholangitis
64 原發(fā)性生長激素缺乏癥 Primary growth hormone deficiency
65 原發(fā)性胰島素樣生長因子-1缺乏癥 Primary IGF1 deficiency
66 原發(fā)性免疫缺陷 Primary immunodeficiency
67 原發(fā)性骨髓纖維化 Primary myelofibrosis
68 原發(fā)性硬化性膽管炎 Primary sclerosing cholangitis
69 進行性纖維化性間質(zhì)性肺疾病 Progressive fibrosing interstitial lung disease
70 復(fù)發(fā)性心包炎 Recurrent pericarditis
71 早產(chǎn)兒視網(wǎng)膜病 Retinopathy of prematurity
72 Rett綜合征 Rett syndrome
73 短腸綜合征 Short bowel syndrome
74 全身型幼年特發(fā)性關(guān)節(jié)炎 Systemic juvenile idiopathic arthritis
75 系統(tǒng)性肥大細(xì)胞增多癥 Systemic mastocytosis
76 大動脈炎/多發(fā)性大動脈炎 Takayasu arteritis
77 腱鞘巨細(xì)胞瘤/色素沉著絨毛結(jié)節(jié)性滑膜炎 Tenosynovial giant cell tumor/Pigmented villonodular synovitis
78 地中海貧血（重型） Thalassemia major
79 血栓性血小板減少性紫癜 Thrombotic thrombocytopenic purpura
80 轉(zhuǎn)甲狀腺素蛋白淀粉樣變性 Transthyretin amyloidosis
81 腫瘤壞死因子受體相關(guān)周期性綜合征 Tumor necrosis factor receptor associated periodic syndrome
82 腫瘤相關(guān)骨軟化癥 Tumor-induced osteomalacia
83 Von Hippel-Lindau綜合征 Von Hippel-Lindau syndrome
84 血管性血友?、笮?Von Willebrand disease type3
85 華氏巨球蛋白血癥/淋巴漿細(xì)胞淋巴瘤 Waldenström macroglobulinemia/ Lymphoplasmacytic lymphoma
86 West綜合征/嬰兒痙攣綜合征 West syndrome/Infantile spasms syndrome