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 |