Table 5.
1. Rare cardiac diseases (with rare cardiac malformations ERN included or separate) | |
2. Rare connective tissue and musculoskeletal diseases | |
3. Rare hereditary metabolic disorders | |
4. Rare haematological diseases | |
5. Rare diseases of brain development and rare intellectual disabilities | |
6. Rare auto-immune and auto inflammatory diseases | |
7. Rare cancers | |
8. Rare hepatic diseases | |
9. Rare gastrointestinal diseases | |
10. Rare neurological diseases | |
11. Rare neuromuscular diseases | |
12. Rare skin disorders | |
13. Rare pulmonary diseases | |
14. Rare malformations and developmental anomalies | |
15. Rare endocrine diseases | |
16. Rare urogenital diseases | |
17. Rare renal diseases | |
18. Rare multi-systemic vascular diseases | |
19. Rare head and neck diseases | |
20. Rare gynaecological and obstetric diseases | |
21. Rare eye diseases | |
22. Rare bone diseases |
Legend: The present list was proposed by the EUCERD Joint Action team and was subsequently submitted to the Commission Expert group on Rare Diseases for discussion