主要罕见病名录（2025年版）

XX市主要罕见病名录（2025年版）序号系统疾病名称（中文）疾病名称（英文）1内分泌与代谢疾病3-羟基-3-甲基戊二酸尿症3-hydroxy-3-methylglutaricaciduria2内分泌与代谢疾病3-甲基戊烯二酸尿症3-methylglutaconicaciduria3内分泌与代谢疾病5α-还原酶2型缺陷症5α-reductasetype2deficiency4骨骼疾病软骨发育不全Achondroplasia5血液疾病获得性血友病Acquiredhemophilia6神经肌肉疾病获得性神经性肌强直Acquiredneuromyotonia7内分泌与代谢疾病肢端肥大症Acromegaly8风湿免疫疾病成人斯蒂尔病Adult-onsetStilldisease9消化疾病Alagille综合征Alagillesyndrome10皮肤疾病白化病Albinism11消化疾病α-1-抗胰蛋白酶缺乏症Alpha-1-antitrypsindeficiency12肾脏疾病Alport综合征Alportsyndrome13内分泌与代谢疾病Alström综合征Alströmsyndrome14神经肌肉疾病肌萎缩侧索硬化Amyotrophiclateralsclerosis15风湿免疫疾病ANCA相关性血管炎ANCA-associatedvasculitis16内分泌与代谢疾病雄激素不敏感综合征Androgeninsensitivitysyndrome17神经肌肉疾病天使综合征Angelmansyndrome18内分泌与代谢疾病精氨酸酶缺乏症Arginasedeficiency19内分泌与代谢疾病精氨酰琥珀酸尿症Argininosuccinicaciduria20骨骼疾病窒息性胸腔失养症（热纳综合征）Asphyxiatingthoracicdystrophy（Jeunesyndrome）21肾脏疾病非典型溶血性尿毒症Atypicalhemolyticuremicsyndrome22神经肌肉疾病自身免疫性脑炎Autoimmuneencephalitis23内分泌与代谢疾病自身免疫性垂体炎Autoimmunehypophysitis24内分泌与代谢疾病自身免疫性胰岛素受体病Autoimmuneinsulinreceptopathy（TypeBinsulinresistance）25内分泌与代谢疾病自身免疫性多内分泌腺病综合征Autoimmunepolyglandularsyndromes26肾脏疾病常染色体显性遗传肾小管间质病Autosomaldominanttubulointerstitialkidneydisease27内分泌与代谢疾病Bardet-Biedl综合征Bardet-Biedlsyndrome28肾脏疾病巴特综合征Barttersyndrome29风湿免疫疾病白塞病/贝赫切特综合征Behçet'sdisease30内分泌与代谢疾病β-酮硫解酶缺乏症Beta-ketothiolasedeficiency31内分泌与代谢疾病生物素酶缺乏症Biotinidasedeficiency32皮肤疾病蓝色橡皮疱样痣Bluerubberblebnevus33耳鼻喉疾病鳃耳肾综合征Branchio-oto-renalsyndrome34肾脏疾病C3肾小球病C3glomerulopathy35内分泌与代谢疾病氨甲酰磷酸合成酶缺乏症Carbamoylphosphatesynthetasedeficiency36心血管疾病心脏离子通道病Cardiacionchannelopathies37内分泌与代谢疾病肉碱棕榈酰转移酶I缺乏症CarnitinepalmitoyltransferaseIdeficiency38内分泌与代谢疾病肉碱棕榈酰转移酶II缺乏症CarnitinepalmitoyltransferaseIIdeficiency39血液疾病Castleman病Castlemandisease40神经肌肉疾病CDKL5缺乏症CDKL5-deficiencydisorder41神经肌肉疾病腓骨肌萎缩症Charcot-Marie-Toothdisease42耳鼻喉疾病CHARGE综合征CHARGEsyndrome43风湿免疫疾病Chediak-Higashi综合征Chediak-Higashisyndrome44皮肤疾病Child综合征（先天性偏侧发育不良伴鱼鳞病样红皮病及肢体缺陷综合征）Childsyndrome45眼科疾病无脉络膜症Choroideremia46神经肌肉疾病慢性炎性脱髓鞘性多发性神经根神经病Chronicinflammatorydemyelinatingpolyneuropathy47风湿免疫疾病慢性非细菌性骨髓炎/慢性复发性多灶性骨髓炎Chronicnon-bacterialosteomyelitis

/Chronicrecurrentmultifocalosteomyelitis48风湿免疫疾病原发性慢性肉芽肿病Chronicprimarygranulomatousdisease49内分泌与代谢疾病希特林蛋白缺乏症Citrindeficiency50内分泌与代谢疾病瓜氨酸血症Citrullinemia51肿瘤疾病肾透明细胞肉瘤Clearcellsarcomaofkidney52眼科疾病外层渗出性视网膜病变Coatsdisease53风湿免疫疾病科根综合征Cogansyndrome54风湿免疫疾病冷凝集素病Coldagglutinindisease55内分泌与代谢疾病先天性脂肪营养不良Congenialgeneralizedlipodystrophy56内分泌与代谢疾病先天性肾上腺皮质增生症Congenitaladrenalhyperplasia57内分泌与代谢疾病先天性肾上腺发育不良Congenitaladrenalhypoplasia58风湿免疫疾病先天性无丙种球蛋白血症Congenitalagammaglobulinemia59血液疾病先天性无巨核细胞性血小板减少症Congenitalamegakaryocyticthrombocytopenia60消化疾病先天性胆道闭锁Congenitalbiliaryatresia61皮肤疾病先天性大疱性鱼鳞病样红皮病Congenitalbullousichthyosiformerythroderma62血液疾病先天性红细胞生成异常性贫血Congenitaldyserythropoieticanemia63血液疾病先天性凝血因子VII缺乏症CongenitalfactorVIIdeficiency64内分泌与代谢疾病先天性高胰岛素性低血糖血症Congenitalhyperinsulinemichypoglycemia65神经肌肉疾病先天性肌无力综合征Congenitalmyasthenicsyndrome66神经肌肉疾病先天性肌强直（非营养不良性肌强直）Congenitalmyotonia（Non-dystrophicmyotonia）67骨骼疾病先天性脊柱侧弯Congenitalscoliosis68心血管疾病冠状动脉扩张病Coronaryarteryectasia69内分泌与代谢疾病肌酸缺乏综合征Creatinedeficiencysyndromes70风湿免疫疾病冷吡啉（冷炎素）相关周期性综合征/NLRP3相关自身炎症性疾病Cryopyrinassociatedperiodicsyndrome/NLRP3-associatedsystemicautoinflammatorydisease71消化疾病隐源性多灶性溃疡性狭窄性小肠炎Cryptogeneticmultifocalulcerousstenosingenteritis72肿瘤疾病皮肤神经内分泌癌（梅克尔细胞癌）Cutaneousneuroendocrinecarcinoma（Merkelcellcarcinoma）73肿瘤疾病皮肤T细胞淋巴瘤CutaneousT-celllymphomas74肾脏疾病胱氨酸贮积症Cystinosis75肾脏疾病登特病Dentdisease76肿瘤疾病隆突性皮肤纤维肉瘤Dermatofibrosarcomaprotuberans77血液疾病先天性纯红细胞再生障碍性贫血Diamond-Blackfananemia78内分泌与代谢疾病多巴反应性肌张力障碍Dopa-responsivedystonia79血液疾病先天性角化不良Dyskeratosiscongenita80耳鼻喉疾病大前庭导水管综合征Enlargedvestibularaqueductsyndrome81消化疾病嗜酸性粒细胞性胃肠炎Eosinophilicgastroenteritis82风湿免疫疾病嗜酸性肉芽肿性血管炎Eosinophilicgranulomatosiswithpolyangiitis83肿瘤疾病上皮样肉瘤Epithelioidsarcoma84血液疾病Erdheim-Chester病Erdheim-Chesterdisease85内分泌与代谢疾病法布雷病Fabrydisease86神经肌肉疾病面肩肱型肌营养不良症Facioscapulohumeralmusculardystrophy87消化疾病家族性腺瘤性息肉病Familialadenomatouspolyposis88内分泌与代谢疾病家族性乳糜微粒综合征Familialchylomicronemiasyndrome89眼科疾病家族性渗出性玻璃体视网膜病变Familialexudativevitreoretinopathy90血液疾病家族性噬血细胞性淋巴组织细胞增生症Familialhemophagocyticlymphohistiocytosis91风湿免疫疾病家族性地中海热Familialmediterraneanfever92血液疾病范可尼贫血Fanconianemia93内分泌与代谢疾病法伯综合征Farberdisease94骨骼疾病进行性骨化性纤维发育不良Fibrodysplasiaossificansprogressiva95内分泌与代谢疾病脆性X综合征FragileXsyndrome96内分泌与代谢疾病果糖-1，6-二磷酸酶缺乏症Fructose-1，6-bisphosphatasedeficiency97内分泌与代谢疾病半乳糖血症Galactosemia98内分泌与代谢疾病神经节苷脂贮积症Gangliosidosis99肿瘤疾病胃肠胰神经内分泌肿瘤Gastroenteropancreaticneuroendocrineneoplasm100肿瘤疾病胃肠间质瘤Gastrointestinalstromaltumor101内分泌与代谢疾病戈谢病Gaucherdisease102神经肌肉疾病全身型重症肌无力Generalizedmyastheniagravis103皮肤疾病泛发性脓疱型银屑病Generalizedpustularpsoriasis104肾脏疾病遗传性局灶节段性肾小球硬化Geneticfocalsegmentalglomerularsclerosis105内分泌与代谢疾病遗传性甲状旁腺功能减退症Genetichypoparathyroidism106风湿免疫疾病巨细胞动脉炎Giantcellarteritis107消化疾病巨细胞肝炎伴自身免疫性溶血Giantcellhepatitisassociatedwithautoimmunehemolyticanemia108骨骼疾病骨巨细胞瘤Giantcelltumorofbone109肾脏疾病Gitelman综合征Gitelmansyndrome110血液疾病血小板无力症Glanzmannthrombasthenia111肿瘤疾病胶质母细胞瘤Glioblastoma112内分泌与代谢疾病葡萄糖转运体1缺陷综合征Glucosetransportertype1deficiencysyndrome113内分泌与代谢疾病戊二酸血症I型GlutaricacidemiatypeI114内分泌与代谢疾病糖原累积病Glycogenstoragedisease115皮肤疾病高林综合征Gorlinsyndrome116血液疾病血友病Hemophilia117消化疾病肝豆状核变性Hepatolenticulardegeneration118皮肤疾病遗传性血管性水肿Hereditaryangioedema119皮肤疾病遗传性大疱性表皮松解症Hereditaryepidermolysisbullosa120内分泌与代谢疾病遗传性果糖不耐受症Hereditaryfructoseintolerance121血液疾病遗传性血色病Hereditaryhemochromatosis122内分泌与代谢疾病遗传性低镁血症Hereditaryhypomagnesemia123神经肌肉疾病遗传性多发脑梗死性痴呆Hereditarymulti-infarctdementia124神经肌肉疾病遗传性痉挛性截瘫Hereditaryspasticparaplegia125皮肤疾病化脓性汗腺炎Hidradenitissuppurativa126内分泌与代谢疾病全羧化酶合成酶缺乏症Holocarboxylasesynthetasedeficiency127内分泌与代谢疾病同型半胱氨酸血症Homocysteinemia128内分泌与代谢疾病纯合子家族性高胆固醇血症Homozygoushypercholesterolemia129神经肌肉疾病亨廷顿舞蹈病Huntingtondisease130内分泌与代谢疾病早老症Hutchinson-Gilfordprogeriasyndrome131风湿免疫疾病高免疫球蛋白E综合征HyperIgEsyndrome132内分泌与代谢疾病HHH综合征Hyperornithinaemia-Hyperammonaemia-Homocitrullinuriasyndrome133内分泌与代谢疾病高苯丙氨酸血症Hyperphenylalaninemia134骨骼疾病低碱性磷酸酯酶血症Hypophosphatasia135骨骼疾病低磷性佝偻病Hypophosphatemicrickets136心血管疾病特发性心肌病Idiopathiccardiomyopathy137内分泌与代谢疾病特发性低促性腺激素性性腺功能减退症Idiopathichypogonadotropichypogonadism138心血管疾病特发性肺动脉高压Idiopathicpulmonaryarterialhypertension139呼吸疾病特发性肺纤维化Idiopathicpulmonaryfibrosis140风湿免疫疾病IgG4相关性疾病IgG4relateddisease141神经肌肉疾病免疫介导坏死性肌病Immune-mediatednecrotizingmyopathy142消化疾病先天性胆汁酸合成障碍Inbornerrorsofbileacidsynthesis143肿瘤疾病炎性肌纤维母细胞瘤Inflammatorymyofibroblastictumor144内分泌与代谢疾病异戊酸血症Isovalericacidemia145内分泌与代谢疾病卡尔曼综合征Kallmannsyndrome146内分泌与代谢疾病球形细胞脑白质营养不良Krabbedisease147神经肌肉疾病Lambert-Eaton肌无力综合征Lambert-Eatonmyasthenicsyndrome148血液疾病朗格汉斯组织细胞增生症Langerhanscellhistiocytosis149内分泌与代谢疾病莱伦氏综合征Laronsyndrome150眼科疾病Leber先天性黑矇Lebercongenitalamaurosis151眼科疾病Leber遗传性视神经病变Leberhereditaryopticneuropathy152神经肌肉疾病Lennox-Gastaut综合征Lennox-Gastautsyndrome153眼科疾病角膜缘干细胞缺乏症Limbalstemcelldeficiency154神经肌肉疾病肢带型肌营养不良症Limb-girdlemusculardystrophy155内分泌与代谢疾病长链3-羟酰基辅酶A脱氢酶缺乏症Longchain3-hydroxyacyl-CoAdehydrogenasedeficiency156呼吸疾病淋巴管肌瘤病Lymphangioleiomyomatosis157内分泌与代谢疾病赖氨酸尿蛋白不耐受症Lysinuricproteinintolerance158内分泌与代谢疾病溶酶体酸性脂肪酶缺乏症Lysosomalacidlipasedeficiency159神经肌肉疾病恶性高热Malignanthyperthermia160肿瘤疾病恶性胸膜间皮瘤Malignantpleuralmesothelioma161内分泌与代谢疾病枫糖尿病Maplesyrupurinedisease162心血管疾病马凡综合征Marfansyndrome163内分泌与代谢疾病McCune-Albright综合征McCune-Albrightsyndrome164内分泌与代谢疾病中链酰基辅酶A脱氢酶缺乏症Mediumchainacyl-CoAdehydrogenasedeficiency165消化疾病巨膀胱-小结肠-肠蠕动不良综合征Megacystis-microcolon-intestinal

hypoperistalsis

syndrome166皮肤疾病黑色素瘤Melanoma167内分泌与代谢疾病门克斯病Menkesdisease168内分泌与代谢疾病异染性脑白质营养不良Metachromaticleukodystrophy169内分泌与代谢疾病甲基丙二酸血症Methylmalonicacidemia170内分泌与代谢疾病单基因非综合征性肥胖Monogenicnon-syndromicobesity171内分泌与代谢疾病黏多糖贮积症Mucopolysaccharidosis172神经肌肉疾病多灶性运动神经病Multifocalmotorneuropathy173内分泌与代谢疾病多种酰基辅酶A脱氢酶缺乏症Multipleacyl-CoAdehydrogenasedeficiency174内分泌与代谢疾病多发性内分泌腺瘤病Multipleendocrineneoplasia175神经肌肉疾病多发性硬化Multiplesclerosis176神经肌肉疾病多系统萎缩Multiplesystematrophy177神经肌肉疾病髓鞘少突胶质细胞糖蛋白抗体相关疾病Myelinoligodendrocyteglycoprotein-IgGassociateddisorders178神经肌肉疾病MAG抗体介导周围神经病Myelin-associatedglycoproteinassociatedneuropathies179神经肌肉疾病肌强直性营养不良Myotonicdystrophy180内分泌与代谢疾病N-乙酰谷氨酸合成酶缺乏症N-acetylglutamatesynthetasedeficiency181神经肌肉疾病发作性睡病Narcolepsy182内分泌与代谢疾病新生儿糖尿病Neonataldiabetesmellitus183肾脏疾病肾消耗病Nephronophthisis184皮肤疾病Netherton综合征（迂回线状鱼鳞病）Nethertonsyndrome185肿瘤疾病神经母细胞瘤Neuroblastoma186肿瘤疾病神经纤维瘤病Neurofibromatosis187神经肌肉疾病视神经脊髓炎Neuromyelitisoptica188内分泌与代谢疾病神经元蜡样脂褐质沉积症Neuronalceroidlipofuscinosis189眼科疾病神经营养性角膜炎Neurotrophickeratitis190内分泌与代谢疾病尼曼匹克病Niemann-Pickdisease191耳鼻喉疾病非综合征性耳聋Non-syndromicdeafness192内分泌与代谢疾病Noonan综合征Noonansyndrome193皮肤疾病Olmsted综合征Olmstedsyndrome194内分泌与代谢疾病鸟氨酸氨甲酰基转移酶缺乏症Ornithinetranscarbamylasedeficiency195骨骼疾病成骨不全症Osteogenesisimperfecta196内分泌与代谢疾病石骨症Osteopetrosis197骨骼疾病骨肉瘤Osteosarcoma198神经肌肉疾病帕金森病（青年型、早发型）Parkinsondisease（Young-onset，Early-onset）199神经肌肉疾病发作性运动诱发性运动障碍Paroxysmalkinesigenicdyskinesia200血液疾病阵发性睡眠性血红蛋白尿Paroxysmalnocturnalhemoglobinuia201皮肤疾病天疱疮Pemphigus202神经肌肉疾病周期性麻痹Periodicparalysis203心血管疾病新生儿持续肺动脉高压Persistentpulmonaryhypertensionofthenewborn204消化疾病黑斑息肉综合征Peutz-Jegherssyndrome205内分泌与代谢疾病苯丙酮尿症Phenylketouria206肿瘤疾病嗜铬细胞瘤Pheochromocytoma207肿瘤疾病PIK3CA相关过度生长综合征PIK3CArelatedovergrowthsyndrome208血液疾病POEMS综合征POEMSsyndrome209血液疾病真性红细胞增多症Polycythemiavera210血液疾病卟啉病Porphyria211消化疾病肝门-窦血管疾病Porto-sinusoidalvasculardisease212内分泌与代谢疾病Prader-Willi综合征Prader-Willisyndrome213消化疾病原发性胆汁性胆管炎Primarybiliarycholangitis214内分泌与代谢疾病原发性肉碱缺乏症Primarycarnitinedeficiency215呼吸疾病原发性纤毛运动障碍Primaryciliarydyskinesia216内分泌与代谢疾病原发性生长激素缺乏症Primarygrowthhormonedeficiency217神经肌肉疾病原发性遗传性肌张力不全Primaryhereditarydystonia218肾脏疾病原发性高草酸尿症Primaryhyperoxaluria219内分泌与代谢疾病原发性胰岛素样生长因子-1缺乏症PrimaryIGF-1deficiency220风湿免疫疾病原发性免疫缺陷Primaryimmunodeficiency221血液疾病原发性轻链型淀粉样变Primarylightchainamyloidosis222神经肌肉疾病原发性线粒体病Primarymitochondrialdisease223血液疾病原发性骨髓纤维化Primarymyelofibrosis224消化疾病原发性硬化性胆管炎Primarysclerosingcholangitis225消化疾病进行性家族性肝内胆汁淤积症Progressivefamilialintrahepaticcholestasis226呼吸疾病进行性纤维化性间质性肺疾病Progressivefibrosinginterstitiallungdisease227神经肌肉疾病进行性肌营养不良Progressivemusculardystrophy228内分泌与代谢疾病丙酸血症Propionicacidemia229呼吸疾病肺泡蛋白沉积症Pulmonaryalveolarproteinosis230呼吸疾病肺囊性纤维化Pulmonarycysticfibrosis231血液疾病丙酮酸激酶缺乏Pyruvatekinasedeficiency232血液疾病无巨核细胞性血小板减少伴尺桡骨融合Radio-ulnarsynostosis-amegakaryocyticthrombocytopeniasyndrome233心血管疾病复发性心包炎Recurrentpericarditis234眼科疾病视网膜色素变性Retinitispigmentosa235眼科疾病视网膜母细胞瘤Retinoblastoma236眼科疾病早产儿视网膜病Retinopathyofprematurity237神经肌肉疾病Rett综合征Rettsyndrome238皮肤疾病严重皮炎、多种过敏和代谢性消耗综合征SAMsyndrome239血液疾病重症先天性粒细胞缺乏症Severecongenitalneutropenia240神经肌肉疾病婴儿严重肌阵挛性癫痫（Dravet综合征）Severemyoclonicepilepsyininfancy（DravetSyndrome）241消化疾病短肠综合征Shortbowelsyndrome242血液疾病先天性中性粒细胞减少伴胰腺机能不全综合征Shwachman-Diamondsyndrome243血液疾病镰刀型细胞贫血病Sicklecelldisease244血液疾病铁粒幼细胞贫血Sideroblasticanemia245内分泌与代谢疾病Silver-Russell综合征Silver-Russellsyndrome246内分泌与代谢疾病谷固醇血症Sitosterolemia247神经肌肉疾病脊髓延髓肌萎缩症（肯尼迪病）Spinalandbulbarmuscularatrophy（Kennedydisease）248神经肌肉疾病脊髓性肌萎缩症Spinalmuscularatrophy249神经肌肉疾病脊髓小脑性共济失调Spinocerebellarataxia250神经肌肉疾病僵人综合征Stiff-personsyndrome251风湿免疫疾病全身型幼年特发性关节炎Systemicjuvenileidiopathicarthritis252血液疾病系统性肥大细胞增多症Systemicmastocytosis253风湿免疫疾病系统性硬化症Systemicsclerosis254心血管疾病大动脉炎/多发性大动脉炎Takayasuart