Table 2. First 20 diseases with utmost need for diagnostic support identified in the first Delphi round*.
| Rare disease | Number of times named by experts (n) |
|---|---|
| Progressive sclerodermia | 10 |
| Pompe’s disease | 7 |
| Pulmonary arterial hypertension (PAH) | 7 |
| Systemic lupus erythematosus (SLE) | 7 |
| Cystic fibrosis (CF) | 6 |
| Mediterranean fever | 6 |
| Morbus Fabry (M. Fabry) | 6 |
| Amyotrophic lateral sclerosis (ALS) | 5 |
| Severe combined immunodeficiency (SCID) | 5 |
| Leukodystrophy | 4 |
| McArdle’s disease | 4 |
| Myelodysplastic syndrome | 4 |
| Morbus Wilson (M.Wilson) | 4 |
| Chronic granulomatous disease (CGD) | 4 |
| Ataxia telangiectasia | 3 |
| Cluster headaches | 3 |
| Ehlers-Danlos syndrome (EDS) | 3 |
| Morbus Hurler | 3 |
| Niemann-Pick Type C | 3 |
| Ornithine transcarbamylase (OTC) deficiency | 3 |
*Hashimoto thyroiditis was mentioned but omitted because not fulfilling the criteria for a rare disease.