年5月11日，国家卫生健康委员会、科学技术部、工业和信息化部、国家药品监督管理局和国家中医药管理局等5部门联合发布我国第一批罕见病目录，共列入种疾病。该目录后被《中华人民共和国人类遗传资源管理条例》所引用，涉及该目录的病种，采集1例及以上进行科学研究，就需要事先申报科技部人类遗传资源采集审批。
序号中文名称英文名称-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HolocarboxylaseSynthetaseDeficiency45同型半胱氨酸血症Homocysteinemia46纯合子家族性高胆固醇血症HomozygousHypercholesterolemia47亨廷顿舞蹈病HuntingtonDisease48HHH综合征Hyperornithinaemia-Hyperammonaemia-HomocitrullinuriaSyndrome49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Lymphangioleiomyomatosis(LAM)65赖氨酸尿蛋白不耐受症LysinuricProteinIntolerance66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MitochodrialEncephalomyopathy73黏多糖贮积症Mucopolysaccharidosis74多灶性运动神经病MultifocalMotorNeuropathy75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N-acetylglutamateSynthaseDeficiency80新生儿糖尿病NeonatalDiabetesMellitus81视神经脊髓炎NeuromyelitisOptica82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ParoxysmalNocturnalHemoglobinuria89黑斑息肉综合征Peutz-JeghersSyndrome90苯丙酮尿症Phenylketonuria91POEMS综合征POEMSSyndrome92卟啉病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进行性肌营养不良ProgressiveMuscularDystrophy99丙酸血症PropionicAcidemia肺泡蛋白沉积症PulmonaryAlveolarProteinosis肺囊性纤维化PulmonaryCysticFibrosis视网膜色素变性RetinitisPigmentosa视网膜母细胞瘤Retinoblastoma重症先天性粒细胞缺乏症SevereCongenitalNeutropenia婴儿严重肌阵挛性癫痫(Dravet综合征)SevereMyoclonicEpilepsyinInfancy(DravetSyndrome)镰刀型细胞贫血病SickleCellDiseaseSilver-Russell综合征Silver-RussellSyndrome谷固醇血症Sitosterolemia脊髓延髓肌萎缩症（肯尼迪病）SpinalandBulbarMuscularAtrophy(KennedyDisease)脊髓性肌萎缩症SpinalMuscularAtrophy脊髓小脑性共济失调SpinocerebellarAtaxia系统性硬化症SystemicSclerosis四氢生物蝶呤缺乏症TetrahydrobiopterinDeficiency结节性硬化症TuberousSclerosisComplex原发性酪氨酸血症Tyrosinemia极长链酰基辅酶A脱氢酶缺乏症VeryLongChainAcyl-CoADehydrogenaseDeficiency威廉姆斯综合征WilliamsSyndrome湿疹血小板减少伴免疫缺陷综合征Wiskott-AldrichSyndromeX-连锁无丙种球蛋白血症X-linkedAgammaglobulinemiaX-连锁肾上腺脑白质营养不良X-linkedAdrenoleukodystrophyX-连锁淋巴增生症X-linkedLymphoproliferativeDisease预览时标签不可点收录于话题#个上一篇下一篇
