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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Acquiredhemophilia3肢端肥大症Acromegaly4成人斯蒂尔病Adult-onsetStilldisease5Alagiue综合征Alagillesyndrome6-1抗胰蛋白酶缺乏症Alpha-1-antitrypsindeficiency7ANCA相关性血管炎ANCA-associatedvasculitis8Bardet-Biedl综合征Bardet-Biedlsyndrome9白塞病/贝赫切特综合征Behetsdisease10蓝色橡皮疱样痣Bluerubbe
2、rblebnevus11CDKL5缺乏症CDKL5-deficiencydisorder12无脉络膜症Choroideremia13慢性炎性脱髓鞘性多发性神经根神经病Chronicinflammatorydemyelinatingpolyneuropathy14肾透明细胞肉瘤Clearcellsarcomaofkidney15冷凝集素病Coldagglutinindisease16先天性胆道闭锁Congenitalbiliaryatresia17先天性凝血因子Vll缺乏症CongenitalfactorVIIdeficiency18冷嗽琳（冷炎素）相关周期性综合征/NLRP3相关自身炎症性疾病
3、Cryopyrinassociatedperiodicsyndrome/NLRP3-associatedsystemicautoinflammatorydisease19皮肤神经内分泌癌（梅克尔细胞癌）Cutaneousneuroendocrinecarcinoma(Merkelcellcarcinoma)20皮肤T细胞淋巴瘤CutaneousT-celllymphomas21胱氨酸贮积症Cystinosis22隆突性皮肤纤维肉瘤Dermatofibrosarcomaprotuberans23嗜酸性粒细胞性胃肠炎Eosinophilicgastroenteritis24上皮样肉瘤Epithel
4、ioidsarcoma25面肩肱型肌营养不良症Facioscapulohumeralmusculardystrophy26家族性噬血细胞淋巴组织细胞增生症FamilialhemophagocyticIymphohistiocytosis27家族性腺瘤性息肉病Familialadenomatouspolyposis28进行性骨化性纤维发育不良Fibrodysplasiaossificansprogressiva29脆性X综合征FragileXsyndrome30神经节甘脂贮积症Gangliosidosis31胃肠胰神经内分泌肿瘤Gastroenteropancreaticneuroendocri
5、ne序号疾病名称（中文）疾病名称（英文）neoplasm32胃肠间质瘤Gastrointestinalstromaltumor33泛发性脓疱型银屑病Generalizedpustularpsoriasis34遗传性甲状旁腺功能减退症Genetichypoparathyroidism35巨细胞动脉炎Giantcellarteritis36骨巨细胞瘤Giantcelltumorofbone37血小板无力症Glanzmannthrombasthenia38胶质母细胞瘤Glioblastoma39高林综合征Gorlinsyndrome40化脓性汗腺炎Hidradenitissuppurativa41早
6、老症Hutchinson-Gilfbrdprogeriasyndrome42炎性肌纤维母细胞瘤Inflammatorymyofibroblastictumor43Leber先天性黑目蒙Lebercongenitalamaurosis44Lennox-Gastaut综合征Lennox-Gastautsyndrome45角膜缘干细胞缺乏症Limbalstemcelldeficiency46恶性高热Malignanthyperthermia47恶性胸膜间皮瘤Malignantpleuralmesothelioma48黑色素瘤Melanoma49异染性脑白质营养不良Metachromaticleuko
7、dystrophy50单基因非综合征性肥胖Monogenicnon-syndromicobesity51多发性内分泌腺瘤病Multipleendocrineneoplasia52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Neuronalceroidlipofuscinosis56神经营养性角膜炎Neurotrophickeratitis57骨肉瘤Osteosarcoma58天疱疮Pemphigus59新生儿持续肺动脉高压Persistentpulmonaryhypertensionofth
8、enewborn60嗜络细胞瘤Pheochromocytoma61PIK3CA相关过度生长综合征PIK3CArelatedovergrowthsyndrome62真性红细胞增多症Polycythaemiavera63原发性胆汁性胆管炎Primarybiliarycholangitis64原发性生长激素缺乏症Primarygrowthhormonedeficiency65原发性胰岛素样生长因子-1缺乏症PrimaryIGFldeficiency序号疾病名称（中文）疾病名称（英文）66原发性免疫缺陷Primaryimmunodeficiency67原发性骨髓纤维化Primarymyelofibro
9、sis68原发性硬化性胆管炎Primarysclerosingcholangitis69进行性纤维化性间质性肺疾病Progressivefibrosinginterstitiallungdisease70复发性心包炎Recurrentpericarditis71早产儿视网膜病Retinopathyofprematurity72Rett综合征Rettsyndrome73短肠综合征Shortbowelsyndrome74全身型幼年特发性关节炎Systemicjuvenileidiopathicarthritis75系统性肥大细胞增多症Systemicmastocytosis76大动脉炎/多发性大动
10、脉炎Takayasuarteritis77腱鞘巨细胞瘤/色素沉着绒毛结节性滑膜炎Tenosynovialgiantcelltumor/Pigmentedvillonodularsynovitis78地中海贫血（重型）Thalassemiamajor79血栓性血小板减少性紫瘢Thromboticthrombocytopenicpurpura80转甲状腺素蛋白淀粉样变性Transthyretinamyloidosis81肿瘤坏死因子受体相关周期性综合征Tumornecrosisfactorreceptorassociatedperiodicsyndrome82肿瘤相关骨软化症Tumor-inducedosteomalacia83VonHippel-Lindau综合征VonHippel-Lindausyndrome84血管性血友病IlI型VonWillebranddiseasetype385华氏巨球蛋白血症/淋巴浆细胞淋巴瘤WaldenstromInacroglobulinemia/1.ymphoplasmacyticlymphoma86West综合征/婴儿痉挛综合征WestSyndromeZInfantilespasmssyndrome
