第二批罕见病目录、第一批罕见病目录.docx

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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Achondrop1asia2获得性血友病Acquiredhemophi1ia3肢端肥大症Acromega1y4成人斯蒂尔病Adu1t-onsetSti11disease5A1agi11e综合征A1agi11esyndrome6Ct-1抗胰蛋白酶缺乏症A1pha-1-antitrypsindeficiency7ANCA相关性血管炎ANCA-associatedvascu1itis8Bardet-Bied1综合征Bardet-Bied1syndrome9白塞病/贝赫切特综合征Behetsdisease10蓝色橡皮疱样痣B1ueru

2、bberb1ebnevus11CDK15缺乏症CDK15-deficiencydisorder12无脉络膜症Choroideremia13慢性炎性脱髓鞘性多发性神经根神经病Chronicinf1ammatorydemye1inatingpo1yneuropathy14肾透明细胞肉瘤C1earce11sarcomaofkidney15冷凝集素病Co1dagg1utinindisease16先天性胆道闭锁Congenita1bi1iaryatresia17先天性凝血因子Vn缺乏症Congenita1factorVIIdeficiency18冷嗽琳（冷炎素）相关周期性综合征/N1RP3相关自身炎症性

3、疾病Cryopyrinassociatedperiodicsyndrome/N1RP3-associatedsystemicautoinf1ammatorydisease19皮肤神经内分泌癌（梅克尔细胞癌）Cutaneousneuroendocrinecarcinoma(Merke1ce11carcinoma)20皮肤T细胞淋巴瘤CutaneousT-ce111ymphomas21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Eosinophi1icgastroenteritis24上皮样肉瘤Epith

4、e1ioidsarcoma25面肩肱型肌营养不良症Facioscapu1ohumera1muscu1ardystrophy26家族性噬血细胞淋巴组织细胞增生症Fami1ia1HemophagocyticIymphohistiocytosis27家族性腺瘤性息肉病Fami1ia1adenomatouspo1yposis28进行性骨化性纤维发育不良Fibrodysp1asiaossificansprogressiva29脆性X综合征Fragi1eXsyndrome序号疾病名称（中文）疾病名称（英文）30神经节昔脂贮积症Gang1iosidosis31胃肠胰神经内分泌肿瘤Gastroenteropa

5、ncreaticneuroendocrineneop1asm32胃肠间质瘤Gastrointestina1stroma1tumor33泛发性脓疱型银屑病Genera1izedpustu1arpsoriasis34遗传性甲状旁腺功能减退症Genetichypoparathyroidism35巨细胞动脉炎Giantce11arteritis36骨巨细胞瘤Giantce11tumorofbone37血小板无力症G1anzmannthrombasthenia38胶质母细胞瘤G1iob1astoma39高林综合征Gor1insyndrome40化脓性汗腺炎Hidradenitissuppurativa4

6、1早老症Hutchinson-Gi1fbrdprogeriasyndrome42炎性肌纤维母细胞瘤Inf1ammatorymyofibrob1astictumor431eber先天性黑朦1ebercongenita1amaurosis441ennox-Gastaut综合征1ennox-Gastautsyndrome45角膜缘干细胞缺乏症1imba1stemce11deficiency46恶性高热Ma1ignanthyperthermia47恶性胸膜间皮瘤Ma1ignantp1eura1mesothe1ioma48黑色素瘤Me1anoma49异染性脑白质营养不良Metachromatic1euk

7、odystrophy50单基因非综合征性肥胖Monogenicnon-syndromicobesity51多发性内分泌腺瘤病Mu1tip1eendocrineneop1asia52发作性睡病Narco1epsy53神经母细胞瘤Neurob1astoma54神经纤维瘤病Neurofibromatosis55神经元蜡样脂褐质沉积症Neurona1ceroid1ipofuscinosis56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Persistentpu1monaryhypertensionoft

8、henewborn60嗜密细胞瘤Pheochromocytoma61PIK3CA相关过度生长综合征PIK3CAre1atedovergrowthsyndrome62真性红细胞增多症Po1ycythaemiavera63原发性胆汁性胆管炎Primarybi1iarycho1angitis序号疾病名称（中文）疾病名称（英文）64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PrimaryIGF1deficiency66原发性免疫缺陷Primaryimmunodeficiency67原发性骨髓纤维化Primarymye1ofibr

9、osis68原发性硬化性胆管炎Primarysc1erosingcho1angitis69进行性纤维化性间质性肺疾病Progressivefibrosinginterstitia11ungdisease70复发性心包炎Recurrentpericarditis71早产儿视网膜病Retinopathyofprematurity72Rett综合征Rettsyndrome73短肠综合征Shortbowe1syndrome74全身型幼年特发性关节炎Systemicjuveni1eidiopathicarthritis75系统性肥大细胞增多症Systemicmastocytosis76大动脉炎/多发性大

10、动脉炎Takayasuarteritis77腱鞘巨细胞瘤/色素沉着绒毛结节性滑膜炎Tenosynovia1giantce11IumorZPigmentedvi11onodu1arsynovitis78地中海贫血（重型）Tha1assemiamajor79血栓性血小板减少性紫瘢Thromboticthrombocytopenicpurpura80转甲状腺素蛋白淀粉样变性Transthyretinamy1oidosis81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-indu

11、cedosteoma1acia83VonHippe1-1indau综合征VonHippe1-1indausyndrome84血管性血友病III型VonWi11ebranddiseasetype385华氏巨球蛋白血症/淋巴浆细胞淋巴瘤Wa1denstrommacrog1obu1inemia/1ymphop1asmacytic1ymphoma86WeSt综合征/婴儿痉挛综合征WestSyndromeZInfanti1espasmssyndrome第一批罕见病目录序号中文名称英文名称121-羟化酶缺乏症2I-Hydroxy1aseDeficiency2白化病A1binism3A1port综合征A1p

12、ortSyndrome4肌萎缩侧索硬化Amyotrophic1atera1Sc1erosis5Ange1man氏症候群（天使综合征）Ange1manSyndrome6精氨酸酶缺乏症ArginaseDeficiency7热纳综合征（窒息性胸腔失养症）AsphyxiatingThoracicDystrophy(JeuneSyndrome)8非典型溶血性尿毒症Atypica1Hemo1yticUremicSyndrome9自身免疫性脑炎AutoimmuneEncepha1itis10自身免疫性垂体炎AutoimmuneHypophysitis11自身免疫性胰岛AutoimmuneInsu1inRec

13、eptopathy素受体病(TypeBinsu1inresistance)12B-酮硫解酶缺乏症Beta-ketothio1aseDeficiency13生物素酶缺乏症BiotinidaseDeficiency14心脏离子通道病CardicIonChanne1opathies15原发性肉碱缺乏症CarnitineDeficiency16Cast1eman病Cast1emanDisease17腓骨肌萎缩症Charcot-Marie-ToothDisease18瓜氨酸血症Citru11inemia19先天性肾上腺发育不良Congenita1Adrena1Hypop1asia20先天性高胰岛素性低血

14、糖血症Congenita1Hyperinsu1inemicHypog1ycemia21先天性肌无力综合征Congenita1MyasthenicSyndrome22先天性肌强直（非营养不良性肌强直综合征）Congenita1MyotoniaSyndrome(Non-DystrophicMyotonia,NDM)23先天性脊柱侧弯Congenita1Sco1iosis24冠状动脉扩张病CoronaryArteryEctasia25先天性纯红细胞再生障碍性贫血Diamond-B1ackfanAnemia26Erdheim-Chester病Erdheim-ChesterDisease27法布雷病FabryDisease28家族性地中海热Fami1ia1MediterraneanFev