第一批罕见病目录

E3Companynumber:[WTUT-WT88Y-W8BBGB-BWYTT-19998]序号中文名称英文名称121-羟化酶缺乏症21-HydroxylaseDeficiency2白化病Albinism3Alport 综合征AlportSyndrome4肌萎缩侧索硬化AmyotrophicLateralSclerosis5Angelman 氏症候群（天使综合征）AngelmanSyndrome6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AtypicalHemolyticUremicSyndrome9自身免疫性脑炎AutoimmuneEncephalitis10自身免疫性垂体炎AutoimmuneHypophysitis11自身免疫性胰岛素受体病AutoimmuneInsulinReceptopathy(TypeBinsulinresistance)120-酮硫解酶缺乏症Beta-ketothiolaseDeficiency13生物素酶缺乏症BiotinidaseDeficiency14心脏离子通道病CardicIonChannelopathies15原发性肉碱缺乏症CarnitineDeficiency16Castleman 病CastlemanDisease17腓骨肌萎缩症Charcot-Marie-ToothDisease18瓜氨酸血症Citrullinemia19先天性肾上腺发育不良CongenitalAdrenalHypoplasia2先天性高胰岛素性低血糖CongenitalHyperinsulinemicHypoglycemia0血症21先天性肌无力综合征CongenitalMyasthenicSyndrome2先天性肌强直（非营养不CongenitalMyotoniaSyndrome(Non-DystrophicMyotonia,NDM)2良性肌强直综合征）2先天性脊柱侧弯CongenitalScoliosis32冠状动脉扩张病CoronaryArteryEctasia42先天性纯红细胞再生障碍Diamond-BlackfanAnemia5性贫血2Erdheim-Chester 病Erdheim-ChesterDisease62法布雷病FabryDisease72家族性地中海热FamilialMediterraneanFever82范可尼贫血FanconiAnemia93半乳糖血症Galactosemia031戈谢病Gaucher'sDisease3全身型重症肌无力GeneralizedMyastheniaGravis23Gitelman 综合征GitelmanSyndrome33戊二酸血症 I 型GlutaricAcidemiaTypeI43糖原累积病（1 型、□型）GlycogenStorageDisease(Type1、II)53血友病Hemophilia63肝豆状核变性HepatolenticularDegeneration(WilsonDisease)738遗传性血管性水肿HereditaryAngioedema(HAE)39遗传性大疱性表皮松解症HereditaryEpidermolysisBullosa40遗传性果糖不耐受症HereditaryFructoseIntolerance41遗传性低镁血症HereditaryHypomagnesemia4遗传性多发脑梗死性痴呆HereditaryMulti-infarctDementia(CerebralAutosomalDominantArteriopathywith2SubcorticalInfarctsandLeukoencephalopathy,CADASIL)43遗传性痉挛性截瘫HereditarySpasticPar...