國(guó)家罕見(jiàn)病目錄一覽表之歐陽(yáng)家百創(chuàng)編

歐陽(yáng)家百創(chuàng)編8年國(guó)家罕見(jiàn)病目錄一覽表歐陽(yáng)家百22.0.7）序號(hào)123456789101112131415161718192021222324

中文名稱(chēng)21-羥化酶缺乏癥白化病Apot綜合征肌萎縮側(cè)索硬化Angelman氏癥候群（天使綜合征）精氨酸酶缺乏癥熱納綜合征（窒息性胸腔失養(yǎng)癥）非典型溶血性尿毒癥自身免疫性腦炎自身免疫性垂體炎自身免疫性胰島素受體病β-酮硫解酶缺癥生物素酶缺乏癥心臟離子通道病原發(fā)性肉堿缺乏癥Castleman病腓骨肌萎縮癥瓜氨酸血癥先天性腎上腺發(fā)育不良先天性高胰島素性低血糖血癥先天性肌無(wú)力綜合征先天性肌強(qiáng)直（非營(yíng)養(yǎng)不良性肌強(qiáng)直綜合征）先天性脊柱側(cè)彎冠狀動(dòng)脈擴(kuò)張病

英文名稱(chēng)21-HydroxylaseDeficiencyAlbinismAlportSyndromeAmyotrophicLateralSclerosisAngelmanSyndromeArginaseDeficiencyAsphyxiatingThoracicDystrophy(Jeuneyndrome)AtypicalHemolyticUremicSyndromeAutoimmuneEncephalitisAutoimmuneHypophysitisAutoimmunensulinReceptopathy(TypeBinsulinresistance)Beta-ketothiolaseDeficiencyBiotinidaseDeficiencyCardicIonChannelopathiesCarnitineDeficiencyCastlemanDiseaseCharcot-Marie-ToothDiseaseCitrullinemiaCongenitalAdrenalHypoplasiaCongenitalHyperinsulinemicHypoglycemiaCongenitalMyasthenicSyndromeCongenitalMyotoniaSyndrome(Non-DystrophicMyotonia,NDM)CongenitalScoliosisCoronaryArteryEctasia歐陽(yáng)家百創(chuàng)編歐陽(yáng)家百創(chuàng)編2526272829303132333435363738394041424344454647484950515253

先天性純紅細(xì)胞再生障礙性貧血Erdheim-Chester病法布雷病家族性地中海熱范可尼貧血半乳糖血癥戈謝病全身型重癥肌無(wú)力Gitelman綜合征戊二酸血癥I型糖原累積病I、Ⅱ型）血友病肝豆?fàn)詈俗冃赃z傳性血管性水腫遺傳性大皰性表皮松解癥遺傳性果糖不耐受癥遺傳性低鎂血癥遺傳性多發(fā)腦梗死性癡呆遺傳性痙攣性截癱全羧化酶合成酶缺乏癥同型半胱氨酸血癥純合子家族性高膽固醇血癥亨廷頓舞蹈病HH綜合征高苯丙氨酸血癥低堿性磷酸酶血癥低磷性佝僂病特發(fā)性心肌病特發(fā)性低促性腺激素性性腺功能減退癥

Diamond-BlackfanAnemiaErdheim-ChesterDiseaseDiseaseFamilialMediterraneanFeverFanconiAnemiaGalactosemiaGau’sieeGravisGitelmanGlutaricAcidemiaIStorageDiseaseI、II）HemophiliaHepatolenticularDegeneration(WilsonDisease)Angioedema(HAE)BullosaFructoseIntoleranceMult-ifarctDementiaCerebralAutosomalDominantwithSubcortialIfarctsandCADASIL)SpasticParaplegiaHuntingtonDiseaseRicketsIdiopathicIdiopathic歐陽(yáng)家百創(chuàng)編乏癥歐陽(yáng)家百創(chuàng)編乏癥54555657585960616263646566676869707172737475767778

特發(fā)性肺動(dòng)脈高壓特發(fā)性肺纖維化IG4相關(guān)性疾病先天性膽汁酸合成障礙異戊酸血癥卡爾曼綜合征朗格漢斯組織細(xì)胞增生癥萊倫氏綜合征Lber遺傳性視神經(jīng)病變長(zhǎng)鏈3-酰基輔酶A脫氫酶缺乏癥淋巴管肌瘤病賴(lài)氨酸尿蛋白不耐受癥溶酶體酸性脂肪酶缺乏癥楓糖尿癥馬凡綜合征McCune-Albrigh綜合征中鏈?；o酶A氫癥甲基丙二酸血癥線(xiàn)粒體腦肌病黏多糖貯積癥多灶性運(yùn)動(dòng)神經(jīng)病多種?；o酶A氫癥多發(fā)性硬化多系統(tǒng)萎縮肌強(qiáng)直性營(yíng)養(yǎng)不良

IdiopathicPulmonaryArterilHypertensionIdiopathicPulmonaryFibrosisIgG4relatedDiseaseInbornErrorsofileAcidSynthesisIsovalricAcidemiaKallmannyndromeLangerhansCellHistiocytosisLaronSyndromeLeberHereditaryOpticNeuropathyLongChain-hydroxacyl-CoADehydrogenaseDeficiencyLymphangioleiomyomatosis(LAM)LysinuricProteinIntoleranceLysosomalAcidLipaseDeficiencyMapleSyrupUrineDiseaseMarfanSyndromeMcCune-AlbrightSyndromeMediumChainAcyl-CoADehydrogenaseDeficiencyMethylmalonicAcademiaMitochodrialEncephalomyopathyMucopolysaccharidosisMultifocalMotorNeuropathyMultipleAcyl-CoADehydrogenaseDeficiencyMultipleSclerosisMultipleSystemAtrophyMyotonicystrophy79 N-乙酰谷氨酸合成酶缺N-acetylglutamateSynthaseDeficiency80 新生兒糖尿病81 視神經(jīng)脊髓炎82 尼曼匹克病

NeonatalDiabetesMelliusNeuromyelitisOpticaNiemann-Pickisease歐陽(yáng)家百創(chuàng)編歐陽(yáng)家百創(chuàng)編8384858687888990919293949596979899100101102103104105106107108109110111

非綜合征性耳聾ooan綜合征鳥(niǎo)氨酸氨甲?；D(zhuǎn)移酶缺乏癥成骨不全癥（脆骨?。┡两鹕。ㄇ嗄晷汀⒃绨l(fā)型）陣發(fā)性睡眠性血紅蛋白尿黑斑息肉綜合征苯丙酮尿癥POEMS綜合征卟啉病Prader-Willi征原發(fā)性聯(lián)合免疫缺陷原發(fā)性遺傳性肌張力不全原發(fā)性輕鏈型淀粉樣變進(jìn)行性家族性肝內(nèi)膽汁淤積癥進(jìn)行性肌營(yíng)養(yǎng)不良丙酸血癥肺泡蛋白沉積癥肺囊性纖維化視網(wǎng)膜色素變性視網(wǎng)膜母細(xì)胞瘤重癥先天性粒細(xì)胞缺乏癥嬰兒嚴(yán)重肌陣攣性癲癇rvt綜合征)鐮刀型細(xì)胞貧血病Silver-Russell綜合征谷固醇血癥脊髓延髓肌萎縮癥（肯尼迪?。┘顾栊约∥s癥脊髓小腦性共濟(jì)失調(diào)

Non-SyndromicDeafnessNoonanSyndromeOrnithineTranscarbamylaseDeficiencyOsteogenesisImperfecta(BritteBoneDisease)ParkinsonDisease(Young-onset,Early-onset)ParoxysmalNocturnalHemoglobinuriaPeutz-JeghersSyndromePhenylketonuriaPOEMSSyndrmePorphyraPrader-WilliSyndromePrimaryCombinedImmuneDeficiencyPrimaryHereditaryDystoniaPrimaryLightChainAmyloidosisProgressiveFamilialIntrahepaticCholestasisProgressiveMuscularDystrophyPropionicAcidemiaPulmonarylveolarProteinosisPulmonaryCysticFibrosisRetinitisPigmentosaRetinoblastomaSevereCongenitalNeutropeniaSevereMyoclonicEpilepsyinnfancy(DravetSyndrome)SickleCellDiseaseSilver-RussellSyndromeSitsterolemiaSpinalndBulbarusculartrophy(KennedyDisease)SpinalMuscularAtrophySpinocerebellarAtaxia歐陽(yáng)家百創(chuàng)編歐陽(yáng)家百創(chuàng)編112113114115116117118119120121

系統(tǒng)性硬化癥四氫生物蝶呤缺乏癥結(jié)節(jié)性硬化癥原發(fā)性酪氨酸血癥極長(zhǎng)鏈?；o酶A脫氫酶缺乏癥威廉姆斯綜合征濕疹血小板減少伴免疫缺陷綜合征-連鎖無(wú)丙種球蛋白血癥-連鎖腎上腺腦白質(zhì)營(yíng)養(yǎng)不良-連鎖淋巴增生癥

SystemicclerosisTetrahydrobiopterinDeficiencyTube