- Raynaud disease
- Refsum disease
- Renal failure due to hypertension
- Renpenning syndrome
- Retinitis pigmentosa
- Retinoblastoma
- Rett syndrome
- Rhizomelic chondrodysplasia punctata
- Rhodopsin
- Rieger syndrome
- RNA (Ribonucleic acid)
- Roberts SC phocomelia
- Robinow syndrome
- Rothmund-Thomson syndrome
- Rubinstein-Taybi syndrome
- Russell-Silver syndrome
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