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1、第一批罕见病目录（2018年发布）序号中文名称英文名称121-羟化酶缺乏症21-HydroxyulaseDeficiency2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
2、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)12B-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-Ma
3、rie-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CongenitalMyasthenicSyndrome22先天性肌强直（非营养不良性肌强直综合征）CongenitalMyotoniaSyndrome(Non-DystrophicMyotonia,NDM)23先天性脊柱侧弯CongenitalScoliosis24冠状动脉扩张病CoronaryArteryEctasi
4、a25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GaucherzsDisease32全身型重症肌无力GeneralMyathenicGravis33Gitelman综合征GitelmanSyndrome34戊二酸血症I型GlutaricAcidemiaTypeI35糖原累积病（1型、11型）Gl
5、ycogenStorageDisease(Type1、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(Cerebral
6、AutosomalDominantArteriopathywithSubcorticalInfarctsandLeukoencephalopathy,CADASIL)43遗传性痉挛性截瘫HereditarySpasticParaplegia44全残化酶合成酶缺乏症HolocarboxylaseSynthetaseDeficiency45同型半胱氨酸血症Homocysteinemia46纯合子家族性高胆固醇血症HomozygousHypercho1esteroIemia47亨廷顿舞蹈病HuntingtonDisease48HHH综合征Hyperornithinaemia-Hyperaminona
7、emia-HhomocitrullinuriaSyndrome49高苯丙氨酸血症Hyperphenylalaninemia50低碱性磷酸酶血症Hypophosphatasia51低磷性佝偻病HypophosphatemicRickets52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IdiopathicPulmonaryArterialHypertension55特发性肺纤维化IdiopathicPulmonaryFibrosis56IgG4相关
8、性疾病IgG4relatedDisease57先天性胆汁酸合成障碍InbornErrorsofBileAcidSynthesis58异戊酸血症IsovalericAcidemia59卡尔曼综合征KallmannSyndrome60朗格汉斯组织细胞增生症LangerhansCellHistiocytosis61莱伦氏综合征LaronSyndrome62Leber遗传性视神经病变LeberHereditaryOpticNeuropathy63长链3-羟酰基辅酶A脱氢酶缺乏症LongChain3-hydroxyacyl-CoADehydrogenaseDeficiency64淋巴管肌瘤病Lympha
9、ngioleiomyomatosis(LAM)65赖氨酸尿蛋白不耐受症LysineUrinaryProteinIntolerance66溶酶体酸性脂肪酶缺乏症LysosomalAcidLipaseDeficiency67枫糖尿症MapleSyrupUrineDisease68马凡综合征MarfanSyndrome69McCune-Albrigh综合征McCune-AlbrightSyndrome70中链酰基辅酶A脱氢酶缺乏症MediumChainAcyl-CoADehydrogenaseDeficiency71甲基丙二酸血症MethylmalonicAcademia72线粒体脑肌病Mitoch
10、odrialEncepha1omyopathy73黏多糖贮积症Mucopolysaccharidosis74多灶性运动神经病Multi-FocalMotorNeurothy75多种酰基辅酶A脱氢酶缺乏症MultipleAcyl-CoADehydrogenaseDeficiency76多发性硬化MultipleSclerosis77多系统萎缩MultipleSystemAtrophy78肌强直性营养不良MyotonicDystrophy79N-乙酰谷氨酸合成酶缺乏症NAGSDeficiency80新生儿糖尿病NeonatalDiabetesMellitus81视神经脊髓炎Neuromyeliti
11、sOptica82尼曼匹克病Niemann-PickDisease83非综合征性耳聋Non-SyndromicDeafness84Noonan综合征NoonanSyndrome85鸟氨酸氨甲酰基转移酶缺乏症OrnithineTranscarbamylaseDeficiency86成骨不全症（脆骨病）OsteogenesisImperfecta(BrittleBoneDisease)87帕金森病（青年型、早发型）ParkinsonDisease(Young-onset,Early-onset)88阵发性睡眠性血红蛋白尿ParoxysmalNocturnalHemoglobinuia89黑斑息肉综
12、合征Peutz-JeghersSyndrome90苯丙酮尿症Phenylketouria91POEMS综合征POEMSSyndrome92口卜咻病Porphyria93Prader-Willi综合征Prader-WilliSyndrome94原发性联合免疫缺陷PrimaryCombinedImmuneDeficiency95原发性遗传性肌张力不全PrimaryHereditaryDystonia96原发性轻链型淀粉样变PrimaryLightChainAmyloidosis97进行性家族性肝内胆汁淤积症ProgressiveFamilialIntrahepaticCholestasis98进行
13、性肌营养不良ProgressiveMuscularDystrophyies99丙酸血症PropionicAcidemia100肺泡蛋白沉积症PulmonaryAlveolarProteinosis101肺囊性纤维化PulmonaryCysticEibrosis102视网膜色素变性症RetinitisPigmentosa103视网膜母细胞瘤Retinoblastoma104重症先天性粒细胞缺乏症SevereCongenitalNeutropenia105婴儿严重肌阵挛性癫痫（Dravet综合征）SevereMyoclonicEpilepsyInInfaricy(DravetSyndrome)10
14、6镰刀型细胞贫血病SickleCellDisease107Silver-Russell综合征Silver-RussellSyndrome108谷固醇血症Sitosterolemia109脊髓延髓肌萎缩症（肯尼迪病）SpinalandBulbarMuscuIarAtrophy(KennedyDisease)110脊髓性肌萎缩症SpinalMuscularAtrophy111脊髓小脑性共济失调SpinocerebellarAtaxia112系统性硬化症SystemicSclerosis113四氢生物蝶吟缺乏症TetrahydrobiopterinDeficiency114结节性硬化症TuberousSclerosisComplex115原发性酪氨酸血症Tyrosinemia116极长链酰基辅酶A脱氢酶缺乏症VeryLongChainAcyl-CoADehydro
