Disease List
- RASopathy - See Cardiofaciocutaneous syndrome
- Rathbun disease - See Hypophosphatasia
- Renal adysplasia - See Bilateral renal agenesis
- Renal agenesis - See Bilateral renal agenesis
- Renal aplasia - See Bilateral renal agenesis
- Renal Hypodysplasia/aplasia - See Bilateral renal agenesis
- Renal hyposdysplasia - See Bilateral renal agenesis
- Retinitis pigmentosa
- Retinoblastoma
- Rett syndrome
- RHDA - See Bilateral renal agenesis
- Riley-day syndrome
- Roberts syndrome
- Robinow syndrome
- Rubinstein-Taybi syndrome