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| Disease | Prevalence | Drugs | Proteins | |
|---|---|---|---|---|
| Amelogenesis imperfecta 3B (AI3B) | N/A | — | 1 | |
| Caudal duplication anomaly (CADUA) | N/A | — | 1 | |
| Diarrhea 12, with microvillus atrophy (DIAR12) | Ultra-Rare | — | 1 | |
| Diarrhea 6 (DIAR6) | Ultra-Rare | — | 1 | |
| Goldberg-Shprintzen syndrome (GOSHS) | Ultra-Rare | — | 1 | |
| Hirschsprung disease 3 (HSCR3) | Uncommon | 2 | 1 | |
| Meconium ileus (MECIL) | Ultra-Rare | — | 1 |