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2017-2020年度疑难罕见病样本信息
数据约8000条，包含脊柱侧凸、LAM、特发性肺动脉高压等罕见病种的病案号、临床诊断、样本的采集时间进行了较为准确的记录，收集了包括心脏、肾脏、骨骼、呼吸等系统的疑难性罕见疾病样本和临床资料数据库，为后续的研究打下了较为坚实的基础。
国家人口健康科学数据中心90
Cutaneous Rosai-Dorfman disease: a systematic review and reappraisal of its treatment and prognosis.
Cutaneous Rosai Dorfman disease (CRDD) is a rare histiocytic disorder that shows distinctive clinical presentation and prognosis. Sufficient data is currently lacking regarding evidence-based manageme
DataCite Commons2025-04-01 更新60
Clinical case series and case reports on Nakalanga syndrome: Southeast Uganda 1950–64, Ethiopia 1967, West Uganda 1991–95, Burundi 1995.
Clinical case series and case reports on Nakalanga syndrome: Southeast Uganda 1950–64, Ethiopia 1967, West Uganda 1991–95, Burundi 1995.
NIAID Data Ecosystem20
Table1_Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch–Nyhan syndrome.xlsx
Background: Hypoxanthine-guanine phosphoribosyltransferase (HPRT1) deficiency is an inborn error of purine metabolism responsible for Lesch–Nyhan syndrome (LNS). The disease is inherited in an X-linke
NIAID Data Ecosystem80
2016-2020年面肩肱型肌营养不良患者光学图谱测序（Bionano）数据
神经系统罕见病产生的科学数据包括：本课题组通过中国医学科学院北京协和医院采集面肩肱型肌营养不良患者光学图谱测序（Bionano）数据，共计25例。采集地点为北京，采集时间2016-2020年，在北京希望组生物科技有限公司通过三代测序技术进行光学图谱测序。
国家人口健康科学数据中心20
