biostudies-literatureZhang H‘13th Five-Year’ National Science and Technology Major Project for New DrugsNational Key Research and Development Program of ChinaBeijing Natural Science Foundation120https://www.ebi.ac.uk/biostudies/studies/S-EPMC8898513biostudies-literatureUnknown17(1)<h4>Background</h4>Rare disease patients often experience diagnosis delays or misdiagnosis, which may be due to lack of knowledge on rare diseases among physicians.<h4>Objective</h4>To assess Chinese physicians' knowledge on specific rare diseases and identify its associated factors.<h4>Methods</h4>Thirty-four patient organizations with a unique disease of interest were invited to develop 3 knowledge questions for each rare disease to assess physicians' knowledge on the disease that they felt most experienced in. The total knowledge score for each participant ranged from a score of 0 to 3. A national cross-sectional study conducted in a cohort of 3197 physicians from 6 provinces across western, central and eastern China. The demographic information of the participants was collected includiOrphanet journal of rare diseasesPhysicians' knowledge on specific rare diseases and its associated factors: a national cross-sectional study from China.PMC889851371921552016YFC09015002019ZX09734001Tian ZDong DZhang HXiao YZhao XZhang SYfalsePhysicians' knowledge on specific rare diseases and its associated factors: a national cross-sectional study from China.<h4>Background</h4>Rare disease patients often experience diagnosis delays or misdiagnosis, which may be due to lack of knowledge on rare diseases among physicians.<h4>Objective</h4>To assess Chinese physicians' knowledge on specific rare diseases and identify its associated factors.<h4>Methods</h4>Thirty-four patient organizations with a unique disease of interest were invited to develop 3 knowledge questions for each rare disease to assess physicians' knowledge on the disease that they felt most experienced in. The total knowledge score for each participant ranged from a score of 0 to 3. A national cross-sectional study conducted in a cohort of 3197 physicians from 6 provinces across western, central and eastern China. The demographic information of the participants was collected includi2022-01-01T00:00:00Z2022 Mar2025-04-22T03:54:47.857Z2025-04-05T20:48:54.736ZS-EPMC88985133524811010.1186/s13023-022-02243-7