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Table 2 Diseases represented in the confirmed rare disease group

From: Survey of healthcare experiences of Australian adults living with rare diseases

Rare disease groups (n = 746) Number of people % of Response Diseases in group
 Rare abdominal surgical disease 1 0.1 1
 Rare allergic diseases 17 2.3 1
 Rare bone disease 5 0.7 4
 Rare circulatory disease 1 0.1 1
 Rare developmental defect during embryogenesis 80 10.7 37
 Rare endocrine diseases 39 5.2 10
 Rare eye disease 1 0.1 1
 Rare gastroenterologic disease 21 2.8 6
 Rare gynecologic or obstetric disease 1 0.1 1
 Rare hematologic disease 21 2.8 7
 Rare hepatic disease 9 1.2 2
 Rare immune disease 41 5.5 7
 Rare inborn errors of metabolism 50 6.7 13
 Rare neoplastic disease 11 1.5 8
 Rare neurological disease 263 35.3 45
 Rare otorhinolaryngologic disease 3 0.4 1
 Rare renal disease 6 0.8 2
 Rare respiratory disease 55 7.4 4
 Rare skin disease 22 3.0 12
 Rare systemic or rheumatologic disease 90 12.1 19
 Unclassified 9 1.2 3