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Table 3 Which of the following rare diseases have been seen or first diagnosed?

From: Poor education and urgent information need for emergency physicians about rare diseases in China

Rare diseases Which of the following rare diseases have you seen? (n = 539) Which of the following rare diseases have you first diagnosed? (n = 140)
Idiopathic pulmonary arterial hypertension 219 40.63% 42 30%
Idiopathic pulmonary fibrosis 248 46.01% 41 29.29%
IgG4-related disease 79 14.66% 16 11.43%
Lymphangioleiomyomatosis 45 8.35% 4 2.86%
Marfan syndrome 265 49.17% 54 38.57%
Multiple sclerosis 223 41.37% 34 24.29%
POMES syndrome 76 14.10% 12 8.57%
Porphyria 143 26.53% 24 17.14%
Albinism 204 37.85% 27 19.29%
Atypical haemolytic uraemic syndrome 49 9.09% 9 6.43%
Autoimmune encephalitis 157 29.13% 30 21.43%
Castleman disease 42 7.79% 3 2.14%
Congenital scoliosis 125 23.19% 19 13.57%
Diamond-Blackfan anaemia 38 7.05% 3 2.14%
Fanconi anaemia 35 6.49% 3 2.14%
Gaucher disease 42 7.79% 3 2.14%
Generalized myasthenia gravis 218 40.45% 48 34.29%
Glycogen storage disease 51 9.46% 2 1.43%
Haemophilia 252 46.75% 30 21.43%
Hepatolenticular degeneration 157 29.13% 32 22.86%
Pulmonary alveolar proteinosis 71 13.17% 16 11.43%
Amyotrophic lateral sclerosis 115 21.34%
Congenital myasthenic syndrome 63 11.69%
Huntington disease 59 10.95%
Idiopathic cardiomyopathy 61 11.32%
Langerhans cell histiocytosis 74 13.73%
Systemic sclerosis 173 32.10%
Others 10 1.86% 13 9.29%
  1. The top five are indicated in bold