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)12β-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CongenitalAdrenalHypoplasia20先天性高胰岛素性低血糖血症CongenitalHyperinsulinemicHypoglycemia21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）23先天性脊柱侧弯CongenitalScoliosis24冠状动脉扩张病CoronaryArteryEctasia25先天性纯红细胞再生障碍性贫血Diamond-BlackfanAnemia26Erdheim-Chester病Erdheim-ChesterDisease27法布雷病FabryDisease28家族性地中海热FamilialMediterraneanFever29范可尼贫血FanconiAnemia30半乳糖血症Galactosemia31戈谢病Gaucher’sDisease32全身型重症肌无力GeneralizedMyastheniaGravis33Gitelman综合征GitelmanSyndrome34戊二酸血症I型GlutaricAcidemiaTypeI35糖原累积病（I型、Ⅱ型）GlycogenStorageDisease(TypeI、II）36血友病Hemophilia37肝豆状核变性HepatolenticularDegeneration(WilsonDisease)38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HereditaryHypomagnesemia42遗传性多发脑梗死性痴呆HereditaryMulti-infarctDementia(CerebralAutosomalDominantArteriopathywithSubcorticalInfarctsandLeukoencephalopathy,CADASIL)43遗传性痉挛性截瘫HereditarySpasticParaplegia44全羧化酶合成酶缺乏症HolocarboxylaseSynthetaseDefici...
