Rare diseases
Conditions
Interventions
Rare Disease Group:None
Sponsors
West China Hospital, Sichuan University
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: From January 1, 2010 to June 15, 2024, patients with rare diseases were clearly diagnosed in West China Hospital, Sichuan University. (Patients with clinical diagnosis of 207 rare diseases listed in the two batches of Rare Disease Catalogue jointly released by ministries and commissions including the National Health Commission and other departments)
Exclusion criteria
Exclusion criteria: 1. Patients with incomplete medical records should be excluded; 2. Due to the small number of rare disease cases and the preciousness of patient data, as many patients with rare diseases should be included as much as possible, the exclusion of patients with missing data should not be considered for the time being.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Genomic variation;Phenotypic variation;Transcriptomic variation;Proteomic alteration;Demography;Medical history; | — |
Countries
China
Contacts
Public ContactZhi Wan
West China Hospital,Sichuan University
Outcome results
None listed