The search resulted in 25 diseases.
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| Orphanet:116 | Beckwith-Wiedemann syndrome | ||
| Orphanet:183 | Eosinophilic granulomatosis with polyangiitis | ||
| Orphanet:220393 | Diffuse cutaneous systemic sclerosis | ||
| Orphanet:220402 | Limited cutaneous systemic sclerosis | ||
| Orphanet:220407 | Limited systemic sclerosis | ||
| Orphanet:231117 | Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 | ||
| Orphanet:231120 | Beckwith-Wiedemann syndrome due to CDKN1C mutation | ||
| Orphanet:231127 | Beckwith-Wiedemann syndrome due to 11p15 microdeletion | ||
| Orphanet:231130 | Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion | ||
| Orphanet:2331 | Kawasaki disease | ||
| Orphanet:238613 | Beckwith-Wiedemann syndrome due to NSD1 mutation | ||
| Orphanet:314701 | Primary systemic amyloidosis | ||
| Orphanet:314709 | Primary localized amyloidosis | ||
| Orphanet:324 | Fabry disease | ||
| Orphanet:324525 | Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation | ||
| Orphanet:648 | Noonan syndrome | ||
| Orphanet:758 | Pseudoxanthoma elasticum | ||
| Orphanet:797 | Sarcoidosis | ||
| Orphanet:85443 | AL amyloidosis | ||
| Orphanet:85445 | AA amyloidosis | ||
| Orphanet:90290 | CREST syndrome | ||
| Orphanet:90291 | Systemic sclerosis | ||
| Orphanet:93567 | Pediatric systemic sclerosis | ||
| Orphanet:96076 | Beckwith-Wiedemann syndrome due to 11p15 microduplication | ||
| Orphanet:96193 | Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 |