第二批罕見病目錄2023版疾病名稱(中文)疾病名稱(英文)12獲得性血友病34成人斯蒂爾病Adult-onsetStilldisease56Alpha-1-antitrypsindeficien7ANCA-associatedvasculi89白塞病/貝赫切特綜合征CDKL5-deficiencydi慢性炎性脫髓鞘性多發性神經根神經病Chronicinflammatorydemyelinatingpolyne腎透明細胞肉瘤冷凝集素病先天性膽道閉鎖先天性凝血因子VII缺乏癥CryopyrinassociatedperiodicsynNLRP3-associatedsystemicautoinflammatorydisease皮膚神經內分泌癌(梅克爾細胞癌)Cutaneousneuroendocrinecarcinoma(Merkelce皮膚T細胞淋巴瘤隆突性皮膚纖維肉瘤Dermatofibrosarcomaprotu嗜酸性粒細胞性胃腸炎上皮樣肉瘤FacioscapulohumeralmusculardystFamilialhemophagocyticlymphohistioc家族性腺瘤性息肉病Familialadenomatouspol進行性骨化性纖維發育不良Fibrodysplasiaossificansprogr胃腸胰神經內分泌腫瘤Gastroenteropancreaticneuroendocrinen胃腸間質瘤泛發性膿皰型銀屑病GeneralizedpustularpsoriasGenetichypoparathy巨細胞動脈炎疾病名稱(中文)疾病名稱(英文)高林綜合征化膿性汗腺炎HidradenitissuppurHutchinson-Gilfordprogeriasyndr炎性肌纖維母細胞瘤角膜緣干細胞缺乏癥惡性高熱MalignanthypertherMalignantpleuralmesotheli黑色素瘤異染性腦白質營養不良MetachromaticleukodystropMonogenicnon-syndromicobesi多發性內分泌腺瘤病Multipleendocrineneopla發作性睡病神經纖維瘤病神經營養性角膜炎Neurotrophickerati天皰瘡Persistentpulmonaryhypertensionof嗜鉻細胞瘤真性紅細胞增多癥原發性膽汁性膽管炎Primarybiliarychola原發性生長激素缺乏癥原發性胰島素樣生長因子-1缺乏癥原發性免疫缺陷原發性骨髓纖維化原發性硬化性膽管炎進行性纖維化性間質性肺疾病復發性心包炎早產兒視網膜病Retinopathyofprem全身型幼年特發性關節炎系統性肥大細胞增多癥大動脈炎/多發性大動脈炎序號疾病名稱(中文)疾病名稱(英文)膜炎地中海貧血(重型)ThromboticthrombocytopenicTumornecrosisfactorreceptorassociatedpTumor-inducedosteoVonHippel