Table 1 “Rare Disease Cohort Study” research project and participating institutions

National Rare Diseases Registry System of China (NRDRS)

1. Chinese Academy of Medical Sciences, Peking Union Medical College Hospital

Rare Cardiac, Respiratory and Kidney Diseases

1. Chinese Academy of Medical Sciences, Beijing Fuwai Hospital*

2. Chinese PLA General Hospital

3. Shanghai Changzheng Hospital

4. The First Affiliated Hospital of Guangzhou Medical University

Rare Endocrine Metabolic and Hematological Diseases

1. Ruijin Hospital, Shanghai Jiaotong University, School of Medicine*

2. The First Affiliated Hospital, Zhejiang University, School of Medicine

3. Chinese Academy of Medical Sciences, Institute of Hematology and Blood Diseases Hospital

4. Shandong Provincial Hospital

5. Shandong Academy of Medical Sciences

Rare Neurological, Skeletal and Cutaneous Diseases

1. West China Hospital, Sichuan University*

2. Fudan University

3. Xiangya Hospital, Central South University

4. The First Hospital of China Medical University

5. Wenzhou Medical University

Rare Pediatric Diseases

1. Peking University First Hospital*

2. Capital Institute of Pediatrics

3. Xinhua Hospital Affiliated to Shanghai Jiao Tong University, School of Medicine

4. Beijing Children’s Hospital, Capital Medical University

5. China-Japan Friendship Hospital