第二批罕見(jiàn)病目錄

第二批罕見(jiàn)病目錄序號(hào)疾病名稱（中文）疾病名稱（英文）1軟骨發(fā)育不全Achondroplasia2獲得性血友病Acquiredhemophilia3肢端肥大癥Acromegaly4成人斯蒂爾病Adult-onsetStilldisease5Alagille綜合征Alagillesyndrome6α-１-抗胰蛋白酶缺乏癥Alpha-1-antitrypsindeficiency7ANCA相關(guān)性血管炎ANCA-associatedvasculitis8Bardet-Biedl綜合征Bardet-Biedlsyndrome9白塞病/貝赫切特綜合征Beh?et'sdisease10藍(lán)色橡皮皰樣痣Bluerubberblebnevus11CDKL5缺乏癥CDKL5-deficiencydisorder12無(wú)脈絡(luò)膜癥Choroideremia13慢性炎性脫髓鞘性多發(fā)性神經(jīng)根神經(jīng)病Chronicinflammatorydemyelinatingpolyneuropathy14腎透明細(xì)胞肉瘤Clearcellsarcomaofkidney15冷凝集素病Coldagglutinindisease16先天性膽道閉鎖Congenitalbiliaryatresia17先天性凝血因子VII缺乏癥CongenitalfactorVIIdeficiency18冷吡啉（冷炎素）相關(guān)周期性綜合征/NLRP3相關(guān)自身炎癥性疾病Cryopyrinassociatedperiodicsyndrome/NLRP3-associatedsystemicautoinflammatorydisease19皮膚神經(jīng)內(nèi)分泌癌（梅克爾細(xì)胞癌）Cutaneousneuroendocrinecarcinoma(Merkelcellcarcinoma)20皮膚T細(xì)胞淋巴瘤CutaneousT-celllymphomas21胱氨酸貯積癥Cystinosis22隆突性皮膚纖維肉瘤Dermatofibrosarcomaprotuberans23嗜酸性粒細(xì)胞性胃腸炎Eosinophilicgastroenteritis24上皮樣肉瘤Epithelioidsarcoma25面肩肱型肌營(yíng)養(yǎng)不良癥Facioscapulohumeralmusculardystrophy26家族性噬血細(xì)胞淋巴組織細(xì)胞增生癥Familialhemophagocyticlymphohistiocytosis27家族性腺瘤性息肉病Familialadenomatouspolyposis28進(jìn)行性骨化性纖維發(fā)育不良Fibrodysplasiaossificansprogressiva29脆性X綜合征FragileXsyndrome30神經(jīng)節(jié)苷脂貯積癥Gangliosidosis31胃腸胰神經(jīng)內(nèi)分泌腫瘤Gastroenteropancreaticneuroendocrineneoplasm32胃腸間質(zhì)瘤Gastrointestinalstromaltumor33泛發(fā)性膿皰型銀屑病Generalizedpustularpsoriasis34遺傳性甲狀旁腺功能減退癥Genetichypoparathyroidism35巨細(xì)胞動(dòng)脈炎Giantcellarteritis36骨巨細(xì)胞瘤Giantcelltumorofbone37血小板無(wú)力癥Glanzmannthrombasthenia38膠質(zhì)母細(xì)胞瘤Glioblastoma39高林綜合征Gorlinsyndrome40化膿性汗腺炎Hidradenitissuppurativa41早老癥Hutchinson-Gilfordprogeriasyndrome42炎性肌纖維母細(xì)胞瘤Inflammatorymyofibroblastictumor43Leber先天性黑矇Lebercongenitalamaurosis44Lennox-Gastaut綜合征Lennox-Gastautsyndrome45角膜緣干細(xì)胞缺乏癥Limbalstemcelldeficiency46惡性高熱Malignanthyperthermia47惡性胸膜間皮瘤Malignantpleuralmesothelioma48黑色素瘤Melanoma49異染性腦白質(zhì)營(yíng)養(yǎng)不良Metachromaticleukodystrophy50單基因非綜合征性肥胖Monogenicnon-syndromicobesity51多發(fā)性內(nèi)分泌腺瘤病Multipleendocrineneoplasia52發(fā)作性睡病Narcolepsy53神經(jīng)母細(xì)胞瘤Neuroblastoma54神經(jīng)纖維瘤病Neurofibromatosis55神經(jīng)元蠟樣脂褐質(zhì)沉積癥Neuronalceroidlipofuscinosis56神經(jīng)營(yíng)養(yǎng)性角膜炎Neurotrophickeratitis57骨肉瘤Osteosarcoma58天皰瘡Pemphigus59新生兒持續(xù)肺動(dòng)脈高壓Persistentpulmonaryhypertensionofthenewborn60嗜鉻細(xì)胞瘤Pheochromocytoma61PIK3CA相關(guān)過(guò)度生長(zhǎng)綜合征PIK3CArelatedovergrowthsyndrome62真性紅細(xì)胞增多癥Polycythaemiavera63原發(fā)性膽汁性膽管炎Primarybiliarycholangitis64原發(fā)性生長(zhǎng)激素缺乏癥Primarygrowthhormonedeficiency65原發(fā)性胰島素樣生長(zhǎng)因子-1缺乏癥PrimaryIGF1deficiency66原發(fā)性免疫缺陷Primaryimmunodeficiency67原發(fā)性骨髓纖維化Primarymyelofibrosis68原發(fā)性硬化性膽管炎Primarysclerosingcholangitis69進(jìn)行性纖維化性間質(zhì)性肺疾病Progressivefibrosinginterstitiallungdisease70復(fù)發(fā)性心包炎R(shí)ecurrentpericarditis71早產(chǎn)兒視網(wǎng)膜病Retinopathyofprematurity72Rett綜合征Rettsyndrome73短腸綜合征Shortbowelsyndrome74全身型幼年特發(fā)性關(guān)節(jié)炎Systemicjuvenileidiopathicarthritis75系統(tǒng)性肥大細(xì)胞增多癥Systemicmastocytosis76大動(dòng)脈炎/多發(fā)性大動(dòng)脈炎Takayasuarteritis77腱鞘巨細(xì)胞瘤/色素沉著絨毛結(jié)節(jié)性滑膜炎Tenosynovialgiantcelltumor/Pigmentedvillonodularsynovitis78地中海貧血（重型）Thalassemiamajor79血栓性血小板減少性紫癜Thromboticthrombocytopenicpurpura80轉(zhuǎn)甲狀腺素蛋白淀粉樣變性Transthyretinamyloidosis81腫瘤壞死因子受體相關(guān)周期性綜合征Tumornecrosisfactorreceptorassociatedperiodicsyndrome82腫瘤相關(guān)骨軟化癥Tumor-inducedosteomalacia83VonHippel-Lindau綜合征VonHippel-Lindausyndrome84血