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1、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Achondroplasia2获得性血友病Acquired hemophilia3肢端肥大症Acromegaly4成人斯蒂尔病Adult-onset Still disease5Alagiue综合征Alagille syndrome6- 1 抗胰蛋白酶缺乏症Alpha-1 -antitrypsin deficiency7ANCA相关性血管炎ANCA-associated vasculitis8Bardet-Biedl 综合征Bardet-Biedl syndrome9白塞病/贝赫切特综合征Behets disease10蓝色橡皮
2、疱样痣Blue rubber bleb nevus11CDKL5缺乏症CDKL5-deficiency disorder12无脉络膜症Choroideremia13慢性炎性脱髓鞘性多发性神经根神经病Chronic inflammatory demyelinating polyneuropathy14肾透明细胞肉瘤Clear cell sarcoma of kidney15冷凝集素病Cold agglutinin disease16先天性胆道闭锁Congenital biliary atresia17先天性凝血因子Vll缺乏症Congenital factor VII deficiency18冷
3、嗽琳（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 disease19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 lymphomas21胱氨酸贮积症Cystinosis22隆突性皮肤纤维肉瘤Dermatofibrosarcoma protuberans23嗜酸性粒细胞性
4、胃肠炎Eosinophilic gastroenteritis24上皮样肉瘤Epithelioid sarcoma25面肩肱型肌营养不良症Facioscapulohumeral muscular dystrophy26家族性噬血细胞淋巴组织细胞增生症Familial hemophagocytic Iymphohistiocytosis27家族性腺瘤性息肉病Familial adenomatous polyposis28进行性骨化性纤维发育不良Fibrodysplasia ossificans progressiva29脆性X综合征Fragile X syndrome30神经节甘脂贮积症Gang
5、liosidosis31胃肠胰神经内分泌肿瘤Gastroenteropancreatic neuroendocrine序号疾病名称（中文）疾病名称（英文）neoplasm32胃肠间质瘤Gastrointestinal stromal tumor33泛发性脓疱型银屑病Generalized pustular psoriasis34遗传性甲状旁腺功能减退症Genetic hypoparathyroidism35巨细胞动脉炎Giant cell arteritis36骨巨细胞瘤Giant cell tumor of bone37血小板无力症Glanzmann thrombasthenia38胶质母细
6、胞瘤Glioblastoma39高林综合征Gorlin syndrome40化脓性汗腺炎Hidradenitis suppurativa41早老症Hutchinson-Gilfbrd progeria syndrome42炎性肌纤维母细胞瘤Inflammatory myofibroblastic tumor43Leber先天性黑目蒙Leber congenital amaurosis44Lennox-Gastaut 综合征Lennox-Gastaut syndrome45角膜缘干细胞缺乏症Limbal stem cell deficiency46恶性高热Malignant hypertherm
7、ia47恶性胸膜间皮瘤Malignant pleural mesothelioma48黑色素瘤Melanoma49异染性脑白质营养不良Metachromatic leukodystrophy50单基因非综合征性肥胖Monogenic non-syndromic obesity51多发性内分泌腺瘤病Multiple endocrine neoplasia52发作性睡病Narcolepsy53神经母细胞瘤Neuroblastoma54神经纤维瘤病Neurofibromatosis55神经元蜡样脂褐质沉积症Neuronal ceroid lipofuscinosis56神经营养性角膜炎Neurotr
8、ophic keratitis57骨肉瘤Osteosarcoma58天疱疮Pemphigus59新生儿持续肺动脉高压Persistent pulmonary hypertension of the newborn60嗜络细胞瘤Pheochromocytoma61PIK3CA相关过度生长综合征PIK3CA related overgrowth syndrome62真性红细胞增多症Polycythaemia vera63原发性胆汁性胆管炎Primary biliary cholangitis64原发性生长激素缺乏症Primary growth hormone deficiency65原发性胰岛素样
9、生长因子-1缺乏症Primary IGFl deficiency序号疾病名称（中文）疾病名称（英文）66原发性免疫缺陷Primary immunodeficiency67原发性骨髓纤维化Primary myelofibrosis68原发性硬化性胆管炎Primary sclerosing cholangitis69进行性纤维化性间质性肺疾病Progressive fibrosing interstitial lung disease70复发性心包炎Recurrent pericarditis71早产儿视网膜病Retinopathy of prematurity72Rett综合征Rett synd
10、rome73短肠综合征Short bowel syndrome74全身型幼年特发性关节炎Systemicjuvenile idiopathic arthritis75系统性肥大细胞增多症Systemic mastocytosis76大动脉炎/多发性大动脉炎Takayasu arteritis77腱鞘巨细胞瘤/色素沉着绒毛结节性滑膜炎Tenosynovial giant cell tumor/Pigmented villonodular synovitis78地中海贫血（重型）Thalassemia major79血栓性血小板减少性紫瘢Thrombotic thrombocytopenic pu
11、rpura80转甲状腺素蛋白淀粉样变性Transthyretin amyloidosis81肿瘤坏死因子受体相关周期性综合征Tumor necrosis factor receptor associated periodic syndrome82肿瘤相关骨软化症Tumor-induced osteomalacia83Von Hippel-Lindau 综合征Von Hippel-Lindau syndrome84血管性血友病IlI型Von Willebrand disease type385华氏巨球蛋白血症/淋巴浆细胞淋巴瘤Waldenstrom Inacroglobulinemia/Lymphoplasmacytic lymphoma86West综合征/婴儿痉挛综合征West SyndromeZInfantile spasms syndrome
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