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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Tuberou
15、sSclerosisComplex115原发性酪氨酸血症Tyrosinemia116极长链酰基辅酶A脱氢酶缺乏症VeryLongChainAcyl-CoADehydrogenaseDeficiency117威廉姆斯综合征WilliamsSyndrome118湿疹血小板减少伴免疫缺陷综合征Wiskott-AldrichSyndrome119X-连锁无丙种球蛋白血症X-IinkedAgammaglobulinemia120X-连锁肾上腺脑白质营养不良X-IinkedLdrenoleukoDystrophy121X-连锁淋巴增生症X-IinkedLymphoproliferativeDisease第
16、二批罕见病目录（2023年公布）序号疾病名称（中文）疾病名称（英文）1软骨发育不全Achondroplasia2获得性血友病Acquiredhemophilia3肢端肥大症Acromegaly4成人斯蒂尔病Adult-onsetStilldisease5AlagiHe综合征Alagillesyndrome6-1抗胰蛋白酶缺乏症Alpha-1-antitrypsindeficiency7ANCA相关性血管炎ANCA-associatedvasculitis8Bardet-Biedl综合征Bardet-Biedlsyndrome9白塞病/贝赫切特综合征Behet,sdisease10蓝色橡皮疱样痣
17、Bluerubberblebnevus11CDKL5缺乏症CDKL5-deficiencydisorder12无脉络膜症Choroideremia13慢性炎性脱髓鞘性多发性神经根神经病Chronicinflammatorydemyelinating序号疾病名称（中文）疾病名称（英文）polyneuropathy14肾透明细胞肉瘤Clearcellsarcomaofkidney15冷凝集素病Coldagglutinindisease16先天性胆道闭锁Congenitalbiliaryatresia17先天性凝血因子Vn缺乏症CongenitalfactorVIIdeficiency18冷嗽琳（冷
18、炎素）相关周期性综合征/NLRP3相关自身炎症性疾病Cryopyrinassociatedperiodicsyndrome/NLRP3-associatedsystemicautoinflammatorydisease19皮肤神经内分泌痛（梅克尔细胞癌）Cutaneousneuroendocrinecarcinoma(Merkelcellcarcinoma)20皮肤T细胞淋巴瘤CutaneousT-celllymphomas21胱氨酸贮积症Cystinosis22隆突性皮肤纤维肉瘤Dermatofibrosarcomaprotuberans23嗜酸性粒细胞性胃肠炎Eosinophilicgas
19、troenteritis24上皮样肉瘤Epithelioidsarcoma25面肩肱型肌营养不良症Facioscapulohumeralmusculardystrophy26家族性噬血细胞淋巴组织细胞增生症FamilialhemophagocyticIymphohistiocytosis27家族性腺瘤性息肉病Familialadenomatouspolyposis28进行性骨化性纤维发育不良Fibrodysplasiaossificansprogressiva29脆性X综合征FragileXsyndrome30神经节普脂贮积症Gangliosidosis31胃肠胰神经内分泌肿瘤Gastroen
20、teropancreaticneuroendocrineneoplasm32胃肠间质瘤Gastrointestinalstromaltumor33泛发性脓疱型银屑病Generalizedpustularpsoriasis34遗传性甲状旁腺功能减退症Genetichypoparathyroidism35巨细胞动脉炎Giantcellarteritis36骨巨细胞瘤Giantcelltumorofbone37血小板无力症Glanzmannthrombasthenia38胶质母细胞瘤Glioblastoma39高林综合征Gorlinsyndrome40化脓性汗腺炎Hidradenitissuppur
21、ativa41早老症Hutchinson-GiIfordprogeriasyndrome42炎性肌纤维母细胞瘤Inflammatorymyofibroblastictumor43Leber先天性黑目蒙Lebercongenitalamaurosis44Lennox-Gastaut综合征Lennox-Gastautsyndrome序号疾病名称（中文）疾病名称（英文）45角膜缘干细胞缺乏症Limbalstemcelldeficiency46恶性高热Malignanthyperthermia47恶性胸膜间皮瘤Malignantpleuralmesothelioma48黑色素瘤Melanoma49异染
22、性脑白质营养不良Metachromaticleukodystrophy50单基因非综合征性肥胖Monogenicnon-syndromicobesity51多发性内分泌腺瘤病Multipleendocrineneoplasia52发作性睡病Narcolepsy53神经母细胞瘤Neuroblastoma54神经纤维瘤病Neurofibromatosis55神经元蜡样脂褐质沉积症Neuronalceroidlipofuscinosis56神经营养性角膜炎Neurotrophickeratitis57骨肉瘤Osteosarcoma58天疱疮Pemphigus59新生儿持续肺动脉高压Persisten
23、tpulmonaryhypertensionofthenewborn60嗜铅细胞瘤Pheochromocytoma61PIK3CA相关过度生长综合征PIK3CArelatedovergrowthsyndrome62真性红细胞增多症Polycythaemiavera63原发性胆汁性胆管炎Primarybiliarycholangitis64原发性生长激素缺乏症Primarygrowthhormonedeficiency65原发性胰岛素样生长因子-1缺乏症PrimaryIGFldeficiency66原发性免疫缺陷Primaryimmunodeficiency67原发性骨髓纤维化Primarymy
24、elofibrosis68原发性硬化性胆管炎Primarysclerosingcholangitis69进行性纤维化性间质性肺疾病Progressivefibrosinginterstitiallungdisease70复发性心包炎Recurrentpericarditis71早产儿视网膜病Retinopathyofprematurity72Rett综合征Rettsyndrome73短肠综合征Shortbowelsyndrome74全身型幼年特发性关节炎Systemicjuvenileidiopathicarthritis75系统性肥大细胞增多症Systemicmastocytosis76大动
25、脉炎/多发性大动脉炎Takayasuarteritis77腱鞘巨细胞瘤/色素沉着绒毛结节性滑膜炎Tenosynovialgiantcelltumor/Pigmentedvillonodularsynovitis78地中海贫血（重型）Thalassemiamajor序号疾病名称（中文）疾病名称（英文）79血栓性血小板减少性紫瘢Thromboticthrombocytopenicpurpura80转甲状腺素蛋白淀粉样变性Transthyretinamyloidosis81肿瘤坏死因子受体相关周期性综合征Tumornecrosisfactorreceptorassociatedperiodicsyndrome82肿瘤相关骨软化症Tumor-inducedosteomalacia83VonHippel-Lindau综合征VonHippel-Lindausyndrome84血管性血友病HI型VonWillebranddiseasetype385华氏巨球蛋白血症/淋巴浆细胞淋巴瘤WaldenstromInacroglobulinemia/1.ymphoplasmacyticlymphoma86West综合征/婴儿痉挛综合征Westsyndrome/Infantilespasmssyndrome
