罕见病知识库 RareSeen

囊性纤维化

Cystic fibrosis

定义 英文原文(暂无中文)

A rare, genetic pulmonary disorder characterized by sweat, thick mucus secretions causing multisystem disease, chronic infections of the lungs, bulky diarrhea and short stature.

别名

粘液粘稠病

基本事实

遗传方式
常染色体隐性
发病年龄
各年龄段
患病率
1-5 / 10 000(Brazil)

相关基因 19

基因名称关联类型
SERPINA1serpin family A member 1Modifying germline mutation in
CFTRCF transmembrane conductance regulatorDisease-causing germline mutation(s) (loss of function) in
TGFB1transforming growth factor beta 1Modifying germline mutation in
GCLCglutamate-cysteine ligase catalytic subunitModifying germline mutation in
MIFmacrophage migration inhibitory factorModifying germline mutation in
HFEhomeostatic iron regulatorModifying germline mutation in
SLC11A1solute carrier family 11 member 1Modifying germline mutation in
DCTN4dynactin subunit 4Modifying germline mutation in
CLCA4chloride channel accessory 4Modifying germline mutation in
STX1Asyntaxin 1AModifying germline mutation in
KCNN4potassium calcium-activated channel subfamily N member 4Modifying germline mutation in
EDNRAendothelin receptor type AModifying germline mutation in
SLC9A3solute carrier family 9 member A3Modifying germline mutation in
HMOX1heme oxygenase 1Modifying germline mutation in
SLC6A14solute carrier family 6 member 14Modifying germline mutation in
SLC26A9solute carrier family 26 member 9Modifying germline mutation in
CEACAM3CEA cell adhesion molecule 3Modifying germline mutation in
CEACAM6CEA cell adhesion molecule 6Modifying germline mutation in
GSTM3glutathione S-transferase mu 3Modifying germline mutation in

临床表型 35

极常见 99–80%7

  • 输精管缺如 HP:0012873
  • 气道阻塞 HP:0006536
  • 支气管扩张 HP:0002110
  • 汗液氯化物浓度升高 HP:0012236
  • 胰腺外分泌功能不全 HP:0001738
  • 吸收不良 HP:0002024
  • 反复呼吸道感染 HP:0002205

常见 79–30%2

  • 发育迟滞 HP:0001508
  • 男性不育 HP:0003251

偶见 29–5%17

  • 肝脏异常 HP:0001392
  • 焦虑 HP:0000739
  • 哮喘 HP:0002099
  • 体重指数下降 HP:0045082
  • 抑郁 HP:0000716
  • 循环肝转氨酶水平升高 HP:0002910
  • 胃食管反流 HP:0002020
  • 胎粪性肠梗阻 HP:0004401
  • 骨质减少 HP:0000938
  • 直肠脱垂 HP:0002035
  • 反复曲霉菌感染 HP:0002724
  • 反复流感嗜血杆菌感染 HP:0005376
  • 反复金黄色葡萄球菌感染 HP:0002726
  • 反复下呼吸道感染 HP:0002783
  • 每秒用力呼气量减少 HP:0032342
  • 鼻窦炎 HP:0000246
  • 脂肪泻 HP:0002570

罕见 <4–1%9

  • 肝硬化 HP:0001394
  • 听力受损 HP:0000365
  • 咯血 HP:0002105
  • 鼻息肉 HP:0100582
  • 肾结石 HP:0000787
  • 非结核分枝杆菌肺部感染 HP:0032261
  • 骨质疏松 HP:0000939
  • 气胸 HP:0002107
  • 反复伯克霍尔德菌感染 HP:0002842

近两年的全球研究 17,449L2

2024/10 起在 Europe PMC 检索所得,按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务,尚未引入。

  • 2026-10综述
    Medical issues and pulmonary outcomes in cystic fibrosis and bronchiectasis
    Current opinion in pulmonary medicine · DOI · Europe PMC
  • 2026-10综述
    Eosinophils in bronchiectasis
    Current opinion in pulmonary medicine · DOI · Europe PMC
  • 2026-09综述开放获取
    Neutrophil extracellular traps in cardiovascular disease: Mechanisms and therapeutic implications (Review)
    International journal of molecular medicine · DOI · Europe PMC
  • 2026-09开放获取
    Fetal growth restriction leads to prolonged nephrogenesis and gene dysregulation in the adult kidney
    Life science alliance · DOI · Europe PMC
  • 2026-09综述开放获取
    Breaking the deadlock of metallo-β-lactamases: evidence and prospects for Aztreonam/Avibactam
    Emerging microbes & infections · DOI · Europe PMC
  • 2026-09开放获取
    ESAT-6-derived lipopeptide-based mucosal vaccine elicits distinct humoral immune responses concomitant with a reduction in &lt;i&gt;mycobacterium&lt;/i&gt; infection
    Emerging microbes & infections · DOI · Europe PMC
  • 2026-09开放获取
    Automated Metadata Review to Support Result Release in Quantitative Liquid Chromatography Coupled With Tandem Mass Spectrometry Applications
    Analytical science advances · DOI · Europe PMC
  • 2026-09病例报告开放获取
    From misdiagnosis to precision management: Thoracic vertebral infection caused by &lt;i&gt;Scedosporium boydii&lt;/i&gt; diagnosed using a multi-platform approach - A case report and literature review
    Medical mycology case reports · DOI · Europe PMC
  • 2026-09开放获取
    The activity of a new bicyclic peptide, PLP-3, against colistin-resistant &lt;i&gt;Pseudomonas aeruginosa&lt;/i&gt; biofilms
    Biofilm · DOI · Europe PMC
  • 2026-09开放获取
    STAT3 inhibition for the induction of immunogenic cell death in multiple myeloma
    Oncoimmunology · DOI · Europe PMC
  • 2026-09开放获取
    Healthcare resource use and costs following RSV-related hospitalizations among US adults aged 50 years and older
    Human vaccines & immunotherapeutics · DOI · Europe PMC
  • 2026-09
    Sputum microbiome and clinical profiles in Portuguese non-cystic fibrosis bronchiectasis patients
    Pulmonology · DOI · Europe PMC
  • 2026-09系统综述开放获取
    Protein sorting and proteostasis mechanisms in CFTR-related exocrine pancreas dysfunction: A systematic narrative review
    Channels (Austin, Tex.) · DOI · Europe PMC
  • 2026-09开放获取
    Nascent chain folding feeds back on mRNA stability through the ribosome: Consequences for therapeutic mRNA design
    Molecular therapy. Nucleic acids · DOI · Europe PMC
  • 2026-09开放获取
    &lt;i&gt;Candida albicans&lt;/i&gt; reprograms &lt;i&gt;Staphylococcus aureus&lt;/i&gt; glycolytic metabolism to drive enhanced virulence
    Virulence · DOI · Europe PMC
  • 2026-09开放获取
    Experimental evolution of phage K enhances antibacterial activity against USA300 MRSA in lung infection models
    Emerging microbes & infections · DOI · Europe PMC
  • 2026-09开放获取
    Post-exercise hypoglycaemia in adults with cystic fibrosis compared to healthy control adults
    Journal of clinical & translational endocrinology · DOI · Europe PMC
  • 2026-09综述开放获取
    Organoid Intelligent Morphomics: Decoding the organoid morphome through artificial intelligence from phenotypic quantification to mechanistic insight
    Bioactive materials · DOI · Europe PMC
  • 2026-09开放获取
    Distinct responses of &lt;i&gt;COL17A1&lt;/i&gt; nonsense variants to readthrough drugs and NOG as a novel enhancer in junctional epidermolysis bullosa
    Molecular therapy. Nucleic acids · DOI · Europe PMC
  • 2026-09开放获取
    Evolving profile and outcomes of patients with pulmonary arterial hypertension undergoing lung transplantation
    JHLT open · DOI · Europe PMC

境外已获批用于本病的药物 22L2

欧盟 12 项、美国 10 项。同一药物在两地各批一次的,会分别列出。

「境外已获批」不等于「在中国能用」。中间隔着进口注册、临床急需境外新药通道、海南博鳌乐城国际医疗旅游先行区等几条路径,各有各的条件与费用。这一节能确定地告诉你的只有一件事:这个病在世界范围内已经有获得批准的药物,它叫什么名字。拿这个名字去问主治医生,是下一步最省力的做法。

药名一律保留英文原文,不作翻译——中国的药品通用名与英文名的音译经常不一致,译错会让人去找一个不存在的药。

尚未获批的在研药物(116 项)

这些药已被欧盟或美国的监管机构认定为罕见病用药(英文 orphan drug designation,中文行业里通称「孤儿药资格」——「孤儿」说的是这类药市场太小、没有厂商愿意认领,不是在说病人)。但这只是一种监管身份:意味着监管机构给予研发上的激励,不代表这个药已被证明有效,也不代表将来一定能上市,绝大多数最终不会成药。列在这里是为了看清有哪些方向正在被尝试。

  • L-Lysine-N-Acetyl-L-Cysteinate欧盟2001-02-14
    Treatment of cystic fibrosis
    官方记录
  • Duramycin欧盟2002-11-13
    Treatment of cystic fibrosis
    官方记录
  • recombinant dog gastric lipase欧盟2003-07-09
    Treatment of cystic fibrosis
    官方记录
  • temocillin sodium欧盟2004-01-14
    Treatment of Burkholderia cepacia lung infection in cystic fibrosis
    官方记录
  • alpha-1 antitrypsin欧盟2004-11-16
    Treatment of cystic fibrosis
    官方记录
  • heparin (sodium)欧盟2006-05-22
    Treatment of cystic fibrosis
    官方记录
  • amikacin sulfate欧盟2006-07-25
    Treatment of Pseudomonas aeruginosa lung infection in cystic fibrosis
    官方记录
  • alginate oligosaccharide (G-block) fragment欧盟2007-09-14
    Treatment of cystic fibrosis
    官方记录
  • avian polyclonal IgY antibody欧盟2008-09-23
    Treatment of cystic fibrosis
    官方记录
  • ciprofloxacin欧盟2009-07-24
    Treatment of cystic fibrosis
    官方记录
  • Hypothiocyanite;lactoferrin欧盟2009-07-24
    Treatment of cystic fibrosis
    官方记录
  • nafamostat mesilate欧盟2010-09-20
    Treatment of cystic fibrosis
    官方记录
  • sinapultide;Dipalmitoylphosphatidylcholine;palmitoyl-oleoyl phosphatid欧盟2011-10-27
    Treatment of cystic fibrosis
    官方记录
  • cysteamine欧盟2011-12-09
    Treatment of cystic fibrosis
    官方记录
  • alpha-1 proteinase inhibitor欧盟2012-10-10
    Treatment of cystic fibrosis
    官方记录
  • recombinant human CXCL8 mutant欧盟2013-06-07
    Treatment of cystic fibrosis
    官方记录
  • 4,6,4'-trimethylangelicin欧盟2013-06-19
    Treatment of cystic fibrosis
    官方记录
  • nitric oxide欧盟2014-01-16
    Treatment of cystic fibrosis
    官方记录
  • 11-(4-Dimethylamino-3-hydroxy-6-methyl-tetrahydro-pyran-2-yloxy)-2-eth欧盟2014-02-19
    Treatment of cystic fibrosis
    官方记录
  • Plasmid DNA encoding the human cystic fibrosis transmembrane conductan欧盟2014-06-04
    Treatment of cystic fibrosis
    官方记录
  • 1-(2,2-difluoro-1,3-benzodioxol-5-yl)-N-{1-[(2R)-2,3-dihydroxypropyl]-欧盟2014-07-04
    Treatment of cystic fibrosis
    官方记录
  • 4-[[(1S,4S)-5-[[4-[4-(oxazol-2-yl)phenoxy]phenyl]methyl]-2,5-diazabicy欧盟2014-11-19
    Treatment of cystic fibrosis
    官方记录
  • fosfomycin disodium;tobramycin欧盟2015-08-10
    Treatment of cystic fibrosis
    官方记录
  • recombinant human acid ceramidase欧盟2015-08-10
    Treatment of cystic fibrosis
    官方记录
  • sodium nitrite;ethylenediaminetetraacetic acid欧盟2016-05-30
    Treatment of cystic fibrosis
    官方记录
  • Phosphoinositide 3-kinase gamma peptide欧盟2017-03-20
    Treatment of cystic fibrosis
    官方记录
  • tamoxifen citrate欧盟2017-05-22
    Treatment of cystic fibrosis
    官方记录
  • teicoplanin欧盟2017-08-23
    Treatment of cystic fibrosis
    官方记录
  • (R)-2-(5-cyano-2-(6-(methoxycarbonyl)-7-methyl-3-oxo-8-(3-(trifluorome欧盟2018-02-22
    Treatment of cystic fibrosis
    官方记录
  • 6-(R)-methyl-5-O-(5-amino-5,6-dideoxy-alpha-L-talofuranosyl)-paromamin欧盟2018-10-26
    Treatment of cystic fibrosis
    官方记录
  • cyclo[L-alanyl-L-seryl-L-isoleucyl-L-prolyl-L-prolyl-L-glutaminyl-L-ly欧盟2018-11-19
    Treatment of cystic fibrosis
    官方记录
  • Ivacaftor, potassium(benzenesulfonyl)({[6-(3-{2-[1-(trifluoromethyl) c欧盟2018-12-14
    Treatment of cystic fibrosis
    官方记录
  • Poly(N-acetyl, N-arginyl)glucosamine欧盟2019-02-26
    Treatment of cystic fibrosis
    官方记录
  • gallium citrate欧盟2019-08-21
    Treatment of cystic fibrosis
    官方记录
  • Herpes simplex virus 1 expressing the human CFTR gene欧盟2021-03-26
    Treatment of cystic fibrosis
    官方记录
  • adeno-associated viral vector serotype 2.5T encoding the human cystic 欧盟2021-05-20
    Treatment of cystic fibrosis
    官方记录
  • 2’-O-(2-methoxyethyl)-5-methyl-P-thiocytidylyl-(3’-O->5’-O)-2’-O-(2-me欧盟2021-12-10
    Treatment of cystic fibrosis
    官方记录
  • mRNA encoding the human CFTR gene欧盟2024-02-19
    Treatment of cystic fibrosis
    官方记录
  • adeno-associated virus serotype A101 containing the codon-optimized hu欧盟2024-07-25
    Treatment of cystic fibrosis
    官方记录
  • 4,9-Dimethyl-6-(4'-aminophenyl)-2H-furo[2,3-h]-1-benzopyran-2-one欧盟2024-11-10
    Treatment of cystic fibrosis
    官方记录

另有 76 项未列出。

数据来自欧洲药品管理局(EMA)的药品与罕见病用药资格公开导出表,以及美国 FDA 的罕见病用药资格数据库(Orphan Drug Product Designation Database)。两边口径不同:欧盟一侧取的是当前状态仍为「已授权」的药品;美国一侧记录的是「曾获批准」这一事实,FDA 的公开表不追踪药物此后是否退市(例如 Relyvrio 于 2024 年撤市,表中仍记为已获批)。请以官方记录页为准。

在中国开展的临床试验 25L2

按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实,并与主治医生商量。

登记为可入组 8

  • 招募中NCT05289245
    A National Registry on Chinese Patients With Cystic Fibrosis
    观察性 · 2022/04/01Peking Union Medical College Hospital
    中国研究中心 1 个:Beijing
  • 招募中NCT06528418
    Identification of Multiple Pulmonary Diseases Using Volatile Organic Compounds Biomarkers in Human Exhaled Breath
    观察性 · 2024/06/30ChromX Health
    中国研究中心 1 个:Guangzhou
  • 招募中NCT06660992
    A Study to Assess the Efficacy and Safety of HSK31858 in Participants With Non-Cystic Fibrosis Bronchiectasis
    III 期 · 干预性 · 2024/09/30Haisco Pharmaceutical Group Co., Ltd.
    中国研究中心 2 个:Guangzhou、Yixingcun
  • 尚未开始招募NCT06715956
    Observational Study of Sputum Inflammation Phenotypes and Clinical Outcomes in Non-Cystic Fibrosis Bronchiectasis
    观察性 · 2024/12/01Guangzhou Institute of Respiratory Disease
    中国研究中心 1 个:Guangzhou
  • 招募中NCT06775340
    Study of RSS0343 Tablets in Patients With Non-cystic Fibrosis Bronchiectasis
    II 期 · 干预性 · 2025/01/22Jiangsu HengRui Medicine Co., Ltd.
    中国研究中心 1 个:Guangzhou
  • 尚未开始招募NCT06981091
    A Multicenter, Randomized, Double-blind, Placebo-controlled Parallel-group Phase 2 Clinical Trial to Evaluate the Efficacy and Safety of XH-S004 Tablets in Patients With Non-cystic Fibrosis Bronchiectasis
    II 期 · 干预性 · 2025/05/16S-INFINITY Pharmaceuticals Co., Ltd
    中国研究中心 1 个:Shanghai
  • 招募中NCT07616375
    A Study to Assess the Safety of HSK31858 in Participants With Non-Cystic Fibrosis Bronchiectasis
    III 期 · 干预性 · 2025/09/28Haisco Pharmaceutical Group Co., Ltd.
    中国研究中心 1 个:Yixingcun
  • 尚未开始招募NCT07696091
    Study on Drug Interactions Affecting the Pharmacokinetics of RSS0343 Tablet
    I 期 · 干预性 · 2026/07Reistone Biopharma Company Limited
    中国研究中心 1 个:Guangzhou
其他状态的试验(17 项)
  • 已完成NCT01116869
    China CellSearch Study
    观察性 · 2010/03/25Johnson & Johnson Medical, China
    中国研究中心 1 个:Beijing
  • 已完成NCT02782312
    Salmeterol-Fluticasone Combined Inhaled Therapy for Non-cystic Fibrosis Bronchiectasis
    IV 期 · 干预性 · 2011/06Shanghai Pulmonary Hospital, Shanghai, China
    中国研究中心 1 个:Shanghai
  • 已完成NCT01684683
    The Effect of Theophylline in the Treatment of Bronchiectasis
    IV 期 · 干预性 · 2012/11The First Affiliated Hospital of Guangzhou Medical University
    中国研究中心 1 个:Guangzhou
  • 状态未知NCT01801657
    The Role of Viral Infection in Acute Exacerbations of Non-cystic Fibrosis Bronchiectasis in Adults
    观察性 · 2013/02The First Affiliated Hospital of Guangzhou Medical University
    中国研究中心 1 个:Guangzhou
  • 已完成NCT02081963
    Combined Administration of Nebulized Amikacin in Patients With Acute Exacerbation of Non-Cystic Fibrosis Bronchiectasis
    IV 期 · 干预性 · 2014/03Qilu Hospital of Shandong University
    中国研究中心 1 个:Jinan
  • 已完成NCT02088216
    Effect of Long-term, High-dose N-acetylcysteine on Exacerbations of Bronchiectaisis
    不适用 · 干预性 · 2014/04/01Qilu Hospital of Shandong University
    中国研究中心 1 个:Jinan
  • 已完成NCT02106832
    Ciprofloxacin Dry Powder for Inhalation (DPI) in Non-cystic Fibrosis Bronchiectasis (Non-CF BE)
    III 期 · 干预性 · 2014/04/30Bayer
    中国研究中心 12 个:Beijing、Chengdu、Chongqing、Fuzhou、Guangzhou、Hohehot 等 12 地
  • 状态未知NCT02507843
    Vitamin D as an Adjunctive Treatment in Patients With Non-Cystic Fibrosis Bronchiectasis
    IV 期 · 干预性 · 2015/01Shanghai Pulmonary Hospital, Shanghai, China
    中国研究中心 1 个:Shanghai
  • 状态未知NCT02929420
    A Clinical Study on the Efficacy and Safety of the Treatment of Hyperplasia of Mammary Glands With Xiaoru Sanjie Capsule
    IV 期 · 干预性 · 2016/10First Affiliated Hospital Xi'an Jiaotong University
    中国研究中心 1 个:Xi'an
  • 已完成NCT03843541
    A Clinical Trial to Compare the Efficacy and Safety of 1-week Treatment of Intravenous N-acetylcysteine (NAC) 600 mg Twice Daily, Ambroxol Hydrochloride 30 mg Twice Daily and Placebo as Expectorant Therapies in Adult Chinese Patients With Respiratory Tract Diseases and Abnormal Mucus Secretions
    III 期 · 干预性 · 2019/06/25Zambon SpA
    中国研究中心 31 个:Baotou、Beijing、Changchun、Chengdu、Chongqing、Deyang 等 21 地
  • 已终止NCT05006573
    Efficacy and Safety of Benralizumab in Patients With Non-cystic Fibrosis Bronchiectasis
    III 期 · 干预性 · 2021/07/21AstraZeneca
    中国研究中心 3 个:Guangzhou、Shanghai、Zhengzhou
  • 状态未知NCT05604495
    Screening for Cystic Fibrosis and Cystic Fibrosis Related Disorders in Chinese Adults With Bronchiectasis
    观察性 · 2022/09/07Shanghai Pulmonary Hospital, Shanghai, China
    中国研究中心 1 个:Shanghai
  • 已完成NCT05601778
    A Study of HSK31858 in Participants with Non-Cystic Fibrosis Bronchiectasis
    II 期 · 干预性 · 2022/12/06Haisco Pharmaceutical Group Co., Ltd.
    中国研究中心 1 个:Guangzhou
  • 进行中·不再招募NCT06106789
    A Study of the Clinical Benefit of Tobramycin Inhalation Solution
    观察性 · 2023/04/01Qianfoshan Hospital
    中国研究中心 1 个:Jinan
  • 已完成NCT06280391
    A Proof-of-Concept Study to Assess the Efficacy, Safety and Tolerability of Itepekimab (Anti-IL-33 mAb) in Participants With Non-cystic Fibrosis Bronchiectasis
    II 期 · 干预性 · 2024/02/20Sanofi
    中国研究中心 8 个:Beijing、Changchun、Chengdu、Guangzhou、Shanghai、Shenyang 等 7 地
  • 进行中·不再招募NCT07245407
    A Translational Study for Phenotyping and Endotyping Chinese Patients With NCFBE
    观察性 · 2025/10/27AstraZeneca
    中国研究中心 38 个:Anning、Beijing、Changchun、Changsha、Chengdu、Chongqing 等 25 地
  • 已完成NCT07289464
    A Clinical Study of RSS0343 in Healthy Subjects
    I 期 · 干预性 · 2026/01/08Reistone Biopharma Company Limited
    中国研究中心 1 个:Wuhan

中国境外的在招试验 182L2

这些试验在中国没有研究中心,通常无法直接报名——入组一般要求在当地居住并接受随访。列在这里是因为它另有用处:看清楚全世界正在试哪些药、做到了哪一期、由谁在做。把药名和 NCT 编号记下来去问主治医生,或据此进一步查该药是否已在境外获批、是否有拓展性用药(expanded access)通道。

美国83法国22英国14加拿大10德国8埃及7西班牙5意大利5巴基斯坦4希腊2波兰2土耳其2澳大利亚2比利时2另有 13 个国家/地区

CT.gov 报告命中 182 项,此处取回并展示最近的 15 项。

  • 尚未开始招募NCT07485010
    Testing a Novel Combination Treatment (Arm D) Versus Standard of Care for Intensive Phase Treatment for Mycobacterium Abscessus Pulmonary Disease in People With or Without Cystic Fibrosis in the Finding the Optimal Regimen for Mycobacterium Abscessus Treatment (FORMaT) Adaptive Platform Trial
    II 期 · 干预性 · 2027/04The University of Queensland
  • 尚未开始招募NCT04940533
    Pharmacokinetics of CFTR Modulators in Pregnant Individuals and in Postpartum Breastfeeding Mothers
    观察性 · 2027/01/01University of Minnesota
    美国
  • 招募中NCT07083557
    Routine Validation and Reproducibility Testing of Laboratory Assays and Research Techniques Used for Endocrine, Cardiometabolic, and Musculoskeletal Disorder Research (VALD)
    观察性 · 2027/01/01Bettina Mittendorfer
    美国
  • 尚未开始招募NCT07696338
    Rethinking Early Airway Clearence Therapies
    不适用 · 干预性 · 2026/09/15Nicole Hamblett
    加拿大、美国
  • 尚未开始招募NCT07813039
    A Phase 1 Relative Bioavailability Study of a VX-581 Tablet Formulation
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外部标识与链接

OrphanetOMIM:219700MONDO:0009061GARD:6233ICD-10 E84、E84.0、E84.1、E84.8ICD-11 CA25ClinicalTrials.gov 检索

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本页数据来源

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  • 中文病名:Orphanet 中文包,冻结于 2020-06-01
  • 表型中文标签:HPO 简体中文翻译(CHPO 上游成果)