R
- Rabson-Mendenhall syndrome
- Radial defect Robin sequence
- Radial hemimelia
- Radioulnar Synostosis
- Rare Disorders
- Rasmussen Johnsen Thomsen syndrome
- Rasmussen encephalitis
- Rasmussen subacute encephalitis
- Reactive angioendotheliomatosis
- Reactive arthritis
- Reardon Hall Slaney syndrome
- Reardon Wilson Cavanagh syndrome
- Rec 8 Syndrome
- Recessive developmental delay, small stature, microcephaly and brain calcifications
- Recombinant 8 Syndrome
- Recombinant chromosome 8 syndrome
- Rectal cancer, childhood
- Rectosigmoid neoplasm
- Recurrent peripheral facial palsy
- Recurrent respiratory papillomatosis
- Red cell phospholipid defect with hemolysis
- Red skin pigment anomaly of New Guinea
- Reductional transverse limb defects
- Reed syndrome
- Reese retinal dysplasia
- Refsum disease
- Refsum disease with increased pipecolic acidemia
- Refsum disease, infantile form
- Reginato Shiapachasse syndrome
- Reifenstein Syndrome (PAIS)
- Reis-Bucklers' corneal dystrophy
- Reiter syndrome
- Relapsing polychondritis
- Renal adysplasia dominant type
- Renal agenesis meningomyelocele mullerian defect
- Renal cell carcinoma
- Renal coloboma syndrome
- Renal dysplasia and retinal aplasia
- Renal dysplasia megalocystis sirenomelia
- Renoprival hypertension
- Reticular dysgenesis
- Reticulate acropigmentation of Kitamura
- Retinochoroidal Coloboma
- Retinopathy anemia CNS anomalies
- Retinopathy aplastic anemia neurological abnormalities
- Retroperitoneal fibrosis
- Rett like syndrome
- Revesz syndrome
