| 第二批罕见病目录 |
| 序号 | 疾病名称（中文） | 疾病名称（英文） |
| 1 | 软骨发育不全 | Achondroplasia |
| 2 | 获得性血友病 | Acquired hemophilia |
| 3 | 肢端肥大症 | Acromegaly |
| 4 | 成人斯蒂尔病 | Adult-onset Still disease |
| 5 | Alagille综合征 | Alagille syndrome |
| 6 | α-１-抗胰蛋白酶缺乏症 | Alpha-1-antitrypsin deficiency |
| 7 | ANCA相关性血管炎 | ANCA-associated vasculitis |
| 8 | Bardet-Biedl 综合征 | Bardet-Biedl syndrome |
| 9 | 白塞病/贝赫切特综合征 | Behçet's disease |
| 10 | 蓝色橡皮疱样痣 | Blue rubber bleb nevus |
| 11 | CDKL5缺乏症 | CDKL5-deficiency disorder |
| 12 | 无脉络膜症 | Choroideremia |
| 13 | 慢性炎性脱髓鞘性多发性神经根神经病 | Chronic inflammatory demyelinating polyneuropathy |
| 14 | 肾透明细胞肉瘤 | Clear cell sarcoma of kidney |
| 15 | 冷凝集素病 | Cold agglutinin disease |
| 16 | 先天性胆道闭锁 | Congenital biliary atresia |
| 17 | 先天性凝血因子VII缺乏症 | Congenital factor VII deficiency |
| 18 | 冷吡啉（冷炎素）相关周期性综合征/NLRP3相关自身炎症性疾病 | Cryopyrin associated periodic syndrome/ NLRP3-associated systemic autoinflammatory disease |
| 19 | 皮肤神经内分泌癌（梅克尔细胞癌） | Cutaneous neuroendocrine carcinoma(Merkel cell carcinoma) |
| 20 | 皮肤T细胞淋巴瘤 | Cutaneous T-cell lymphomas |
| 21 | 胱氨酸贮积症 | Cystinosis |
| 22 | 隆突性皮肤纤维肉瘤 | Dermatofibrosarcoma protuberans |
| 23 | 嗜酸性粒细胞性胃肠炎 | Eosinophilic gastroenteritis |
| 24 | 上皮样肉瘤 | Epithelioid sarcoma |
| 25 | 面肩肱型肌营养不良症 | Facioscapulohumeral muscular dystrophy |
| 26 | 家族性噬血细胞淋巴组织细胞增生症 | Familial hemophagocytic lymphohistiocytosis |
| 27 | 家族性腺瘤性息肉病 | Familial adenomatous polyposis |
| 28 | 进行性骨化性纤维发育不良 | Fibrodysplasia ossificans progressiva |
| 29 | 脆性X综合征 | Fragile X syndrome |
| 30 | 神经节苷脂贮积症 | Gangliosidosis |
| 31 | 胃肠胰神经内分泌肿瘤 | Gastroenteropancreatic neuroendocrine neoplasm |
| 32 | 胃肠间质瘤 | Gastrointestinal stromal tumor |
| 33 | 泛发性脓疱型银屑病 | Generalized pustular psoriasis |
| 34 | 遗传性甲状旁腺功能减退症 | Genetic hypoparathyroidism |
| 35 | 巨细胞动脉炎 | Giant cell arteritis |
| 36 | 骨巨细胞瘤 | Giant cell tumor of bone |
| 37 | 血小板无力症 | Glanzmann thrombasthenia |
| 38 | 胶质母细胞瘤 | Glioblastoma |
| 39 | 高林综合征 | Gorlin syndrome |
| 40 | 化脓性汗腺炎 | Hidradenitis suppurativa |
| 41 | 早老症 | Hutchinson-Gilford progeria syndrome |
| 42 | 炎性肌纤维母细胞瘤 | Inflammatory myofibroblastic tumor |
| 43 | Leber先天性黑矇 | Leber congenital amaurosis |
| 44 | Lennox-Gastaut 综合征 | Lennox-Gastaut syndrome |
| 45 | 角膜缘干细胞缺乏症 | Limbal stem cell deficiency |
| 46 | 恶性高热 | Malignant hyperthermia |
| 47 | 恶性胸膜间皮瘤 | Malignant pleural mesothelioma |
| 48 | 黑色素瘤 | Melanoma |
| 49 | 异染性脑白质营养不良 | Metachromatic leukodystrophy |
| 50 | 单基因非综合征性肥胖 | Monogenic non-syndromic obesity |
| 51 | 多发性内分泌腺瘤病 | Multiple endocrine neoplasia |
| 52 | 发作性睡病 | Narcolepsy |
| 53 | 神经母细胞瘤 | Neuroblastoma |
| 54 | 神经纤维瘤病 | Neurofibromatosis |
| 55 | 神经元蜡样脂褐质沉积症 | Neuronal ceroid lipofuscinosis |
| 56 | 神经营养性角膜炎 | Neurotrophic keratitis |
| 57 | 骨肉瘤 | Osteosarcoma |
| 58 | 天疱疮 | Pemphigus |
| 59 | 新生儿持续肺动脉高压 | Persistent pulmonary hypertension of the newborn |
| 60 | 嗜铬细胞瘤 | Pheochromocytoma |
| 61 | PIK3CA相关过度生长综合征 | PIK3CA related overgrowth syndrome |
| 62 | 真性红细胞增多症 | Polycythaemia vera |
| 63 | 原发性胆汁性胆管炎 | Primary biliary cholangitis |
| 64 | 原发性生长激素缺乏症 | Primary growth hormone deficiency |
| 65 | 原发性胰岛素样生长因子-1缺乏症 | Primary IGF1 deficiency |
| 66 | 原发性免疫缺陷 | Primary immunodeficiency |
| 67 | 原发性骨髓纤维化 | Primary myelofibrosis |
| 68 | 原发性硬化性胆管炎 | Primary sclerosing cholangitis |
| 69 | 进行性纤维化性间质性肺疾病 | Progressive fibrosing interstitial lung disease |
| 70 | 复发性心包炎 | Recurrent pericarditis |
| 71 | 早产儿视网膜病 | Retinopathy of prematurity |
| 72 | Rett综合征 | Rett syndrome |
| 73 | 短肠综合征 | Short bowel syndrome |
| 74 | 全身型幼年特发性关节炎 | Systemic juvenile idiopathic arthritis |
| 75 | 系统性肥大细胞增多症 | Systemic mastocytosis |
| 76 | 大动脉炎/多发性大动脉炎 | Takayasu arteritis |
| 77 | 腱鞘巨细胞瘤/色素沉着绒毛结节性滑膜炎 | Tenosynovial giant cell tumor/Pigmented villonodular synovitis |
| 78 | 地中海贫血（重型） | Thalassemia major |
| 79 | 血栓性血小板减少性紫癜 | Thrombotic thrombocytopenic purpura |
| 80 | 转甲状腺素蛋白淀粉样变性 | Transthyretin amyloidosis |
| 81 | 肿瘤坏死因子受体相关周期性综合征 | Tumor necrosis factor receptor associated periodic syndrome |
| 82 | 肿瘤相关骨软化症 | Tumor-induced osteomalacia |
| 83 | Von Hippel-Lindau综合征 | Von Hippel-Lindau syndrome |
| 84 | 血管性血友病Ⅲ型 | Von Willebrand disease type3 |
| 85 | 华氏巨球蛋白血症/淋巴浆细胞淋巴瘤 | Waldenström macroglobulinemia/ Lymphoplasmacytic lymphoma |
| 86 | West综合征/婴儿痉挛综合征 | West syndrome/Infantile spasms syndrome |
