第一二批罕见病目录.docx
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1、第一批罕见病目录序号中文名称英文名称121-羟化醉缺乏症2I-HydroxyIaseDeficiency2白化病A1binism3A1port综合征1portSyndrome4肌萎缩侧索硬化Amyotrophic1atera1Sc1erosis5Angc1nian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Autoim
2、muneEncepha1itis10自身免疫性垂体炎AutoimmuneHypophysitis11自身免疫性胰岛素受体病AutoimmuneInsu1inReceptopathy(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-ToothD
3、isease18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糖血症Congenita1Hyperinsu1inomicHypog1ycemia21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
4、再生障碍性贫血Diamond-B1ackfanAnemia26Erdhcim-Choster病Erdhcim-ChesterDisease27法布雷病FabryDisease28家族性地中海热Eami1ia1MediterraneanFever29范可尼贫血FanconiAnomia30半乳糖血症Ga1actosemia31戈谢病Gaucher*sDisease32全身型重症肌无力Genera1izedMyastheniaGravis33Gite1man综合征Gite1manSyndrome34戊二酸血症I型G1utaricAcidemiaTypeI35糖原累积病(I型、型)G1ycogenS
5、torageDisease(TypeI、II)36血友病Hemophi1ia37肝豆状核变性Hepato1cnticu1arDogcneration(Wi1sonDisease)38遗传性血管性水肿HereditaryAngioedema(HAE)39遗传性大疱性表皮松解症HereditaryEpidermo1ysisBu11osa40遗传性果糖不耐受症HereditaryFructoseInto1erance41遗传性低镁血症HereditaryHypomagnesemia42遗传性多发脑梗死性痴呆HereditaryMu1ti-infarctDementia(Cerebra1Autosom
6、a1DominantArteriopathywithSubcortica1Infarctsand1eukoencepha1opathy,CADASI1)43遗传性痉挛性截瘫HereditarySpasticParap1egia44全竣化酶合成酶缺乏症Ho1ocarboxy1aseSynthetaseDeficiency45同型半胱氨酸血症Homocysteincmia46纯合子家族性高胆固醇血症HomozygousHypercho1estero1emia47亨廷顿舞蹈病HuntingtonDisease48HHH综合征Hyperornithinaemia-Hyperammonaemia-Hom
7、ocitru11inuriaSyndrome49高苯丙氨酸血症Hyperpheny1a1aninemia50低碱性磷酸酶血症Hypophosphatasia51低磷性佝偻病HypophosphatcmicRickets52特发性心肌病IdiopathicCardiomyopathy53特发性低促性腺激素性性腺功能减退症IdiopathicHypogonadotropicHypogonadism54特发性肺动脉高压IdiopathicPu1monaryArteria1Hypertension55特发性肺纤维化IdiopathicPu1monaryFibrosis561gG4相关性疾病1gG4re
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