On September 18, China’s National Health Commission, released their second list of rare diseases. This list includes 86 rare diseases including Giant Cell arteritis, Gorlin Syndrome, Fragile X Syndrome, etc.
No. | Chinese Name | English Name |
1 | 软骨å‘育ä¸å…¨ | Achondroplasia |
2 | 获得性血å‹ç—… | Acquired hemophilia |
3 | 肢端肥大症 | Acromegaly |
4 | æˆäººæ–¯è’‚尔病 | Adult-onset Still disease |
5 | Alagille综åˆå¾ | Alagille syndrome |
6 | α-1-抗胰蛋白酶缺ä¹ç—‡ | Alpha-1-antitrypsin deficiency |
7 | ANCA相关性血管炎 | ANCA-associated vasculitis |
8 | Bardet-Biedl 综åˆå¾ | Bardet-Biedl syndrome |
9 | 白塞病/è´èµ«åˆ‡ç‰¹ç»¼åˆå¾ | Behçet’s disease |
10 | è“è‰²æ©¡çš®ç–±æ ·ç—£ | Blue rubber bleb nevus |
11 | CDKL5缺ä¹ç—‡ | CDKL5-deficiency disorder |
12 | æ— è„‰ç»œè†œç—‡ | Choroideremia |
13 | 慢性炎性脱髓鞘性多å‘性神ç»æ ¹ç¥žç»ç—… | Chronic inflammatory demyelinating polyneuropathy |
14 | 肾é€æ˜Žç»†èƒžè‚‰ç˜¤ | Clear cell sarcoma of kidney |
15 | 冷å‡é›†ç´ ç—… | Cold agglutinin disease |
16 | 先天性胆é“é—é” | Congenital biliary atresia |
17 | 先天性å‡è¡€å› åVII缺ä¹ç—‡ | Congenital factor VII deficiency |
18 | 冷å¡å•‰ï¼ˆå†·ç‚Žç´ )相关周期性综åˆå¾/
NLRP3相关自身炎症性疾病 |
Cryopyrin associated periodic syndrome/ NLRP3-associated systemic autoinflammatory disease |
19 | 皮肤神ç»å†…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çªæ€§çš®è‚¤çº¤ç»´è‚‰ç˜¤ | Dermatofibrosarcoma protuberans |
23 | å—œé…¸æ€§ç²’ç»†èƒžæ€§èƒƒè‚ ç‚Ž | Eosinophilic gastroenteritis |
24 | ä¸Šçš®æ ·è‚‰ç˜¤ | Epithelioid sarcoma |
25 | é¢è‚©è‚±åž‹è‚Œè¥å…»ä¸è‰¯ç—‡ | Facioscapulohumeral muscular dystrophy |
26 | 家æ—性噬血细胞淋巴组织细胞增生症 | Familial hemophagocytic lymphohistiocytosis |
27 | 家æ—性腺瘤性æ¯è‚‰ç—… | Familial adenomatous polyposis |
28 | 进行性骨化性纤维å‘育ä¸è‰¯ | Fibrodysplasia ossificans progressiva |
29 | 脆性X综åˆå¾ | Fragile X syndrome |
30 | 神ç»èŠ‚苷脂贮积症 | Gangliosidosis |
31 | èƒƒè‚ èƒ°ç¥žç»å†…分泌肿瘤 | Gastroenteropancreatic neuroendocrine neoplasm |
32 | èƒƒè‚ é—´è´¨ç˜¤ | Gastrointestinal stromal tumor |
33 | æ³›å‘性脓疱型银屑病 | Generalized pustular psoriasis |
34 | é—ä¼ æ€§ç”²çŠ¶æ—腺功能å‡é€€ç—‡ | Genetic hypoparathyroidism |
35 | 巨细胞动脉炎 | Giant cell arteritis |
36 | 骨巨细胞瘤 | Giant cell tumor of bone |
37 | è¡€å°æ¿æ— 力症 | Glanzmann thrombasthenia |
38 | 胶质æ¯ç»†èƒžç˜¤ | Glioblastoma |
39 | 高林综åˆå¾ | Gorlin syndrome |
40 | 化脓性汗腺炎 | Hidradenitis suppurativa |
41 | æ—©è€ç—‡ | Hutchinson-Gilford progeria syndrome |
42 | 炎性肌纤维æ¯ç»†èƒžç˜¤ | Inflammatory myofibroblastic tumor |
43 | Leber先天性黑矇 | Leber congenital amaurosis |
44 | Lennox-Gastaut 综åˆå¾ | Lennox-Gastaut syndrome |
45 | 角膜缘干细胞缺ä¹ç—‡ | Limbal stem cell deficiency |
46 | æ¶æ€§é«˜çƒ | Malignant hyperthermia |
47 | æ¶æ€§èƒ¸è†œé—´çš®ç˜¤ | Malignant pleural mesothelioma |
48 | é»‘è‰²ç´ ç˜¤ | Melanoma |
49 | 异染性脑白质è¥å…»ä¸è‰¯ | Metachromatic leukodystrophy |
50 | å•åŸºå› éžç»¼åˆå¾æ€§è‚¥èƒ– | Monogenic non-syndromic obesity |
51 | 多å‘性内分泌腺瘤病 | Multiple endocrine neoplasia |
52 | å‘作性ç¡ç—… | Narcolepsy |
53 | 神ç»æ¯ç»†èƒžç˜¤ | Neuroblastoma |
54 | 神ç»çº¤ç»´ç˜¤ç—… | Neurofibromatosis |
55 | 神ç»å…ƒèœ¡æ ·è„‚è¤è´¨æ²‰ç§¯ç—‡ | Neuronal ceroid lipofuscinosis |
56 | 神ç»è¥å…»æ€§è§’膜炎 | Neurotrophic keratitis |
57 | 骨肉瘤 | Osteosarcoma |
58 | 天疱疮 | Pemphigus |
59 | 新生儿æŒç»è‚ºåŠ¨è„‰é«˜åŽ‹ | Persistent pulmonary hypertension of the newborn |
60 | 嗜铬细胞瘤 | Pheochromocytoma |
61 | PIK3CA相关过度生长综åˆå¾ | PIK3CA related overgrowth syndrome |
62 | 真性红细胞增多症 | Polycythaemia vera |
63 | 原å‘性胆æ±æ€§èƒ†ç®¡ç‚Ž | Primary biliary cholangitis |
64 | 原å‘æ€§ç”Ÿé•¿æ¿€ç´ ç¼ºä¹ç—‡ | Primary growth hormone deficiency |
65 | 原å‘æ€§èƒ°å²›ç´ æ ·ç”Ÿé•¿å› å-1缺ä¹ç—‡ | Primary IGF1 deficiency |
66 | 原å‘性å…疫缺陷 | Primary immunodeficiency |
67 | 原å‘性骨髓纤维化 | Primary myelofibrosis |
68 | 原å‘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 | å¤å‘性心包炎 | Recurrent pericarditis |
71 | 早产儿视网膜病 | Retinopathy of prematurity |
72 | Rett综åˆå¾ | Rett syndrome |
73 | çŸè‚ 综åˆå¾ | Short bowel syndrome |
74 | 全身型幼年特å‘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å‘性大动脉炎 | Takayasu arteritis |
77 | 腱鞘巨细胞瘤/è‰²ç´ æ²‰ç€ç»’毛结节性滑膜炎 | Tenosynovial giant cell tumor/Pigmented villonodular synovitis |
78 | 地ä¸æµ·è´«è¡€ï¼ˆé‡åž‹ï¼‰ | Thalassemia major |
79 | è¡€æ “æ€§è¡€å°æ¿å‡å°‘性紫癜 | Thrombotic thrombocytopenic purpura |
80 | è½¬ç”²çŠ¶è…ºç´ è›‹ç™½æ·€ç²‰æ ·å˜æ€§ | Transthyretin amyloidosis |
81 | 肿瘤åæ»å› åå—体相关周期性综åˆå¾ | Tumor necrosis factor receptor associated periodic syndrome |
82 | 肿瘤相关骨软化症 | Tumor-induced osteomalacia |
83 | Von Hippel-Lindau综åˆå¾ | Von Hippel-Lindau syndrome |
84 | 血管性血å‹ç—…Ⅲ型 | Von Willebrand disease type3 |
85 | åŽæ°å·¨çƒè›‹ç™½è¡€ç—‡/淋巴浆细胞淋巴瘤 | Waldenström macroglobulinemia/ Lymphoplasmacytic lymphoma |
86 | West综åˆå¾/婴儿痉挛综åˆå¾ | West syndrome/Infantile spasms syndrome |