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Table 2 Rare disease classifications among 1218 participants with rare diseases in the U.S

From: Health-related quality of life among adults with diverse rare disorders

Orphanet Classification Frequency Percent
Bone 19 1%
Cardiac 3 <1%
Developmental defect 71 5%
Endocrine 52 4%
Eye 3 <1%
Gastroenterologic 11 1%
Hematologic 27 2%
Hepatic 12 1%
Immune 93 7%
Inborn errors of metabolism 31 2%
Infectious 16 1%
Neoplastic 268 19%
Neurologic 581 41%
Otorhinolaryngologic 41 3%
Psychiatric 2 <1%
Renal 5 <1%
Respiratory 14 1%
Skin 52 4%
Systemic and rheumatological 118 8%
Urogenital 1 <1%
Total 1420 100