| | Rabson-Mendenhall syndrome |
| | Radial defect Robin sequence |
| | Radial hypoplasia, triphalangeal thumbs and hypospadias |
| | Radial ray hypoplasia choanal atresia |
| | Radiation induced angiosarcoma of the breast |
| | Radiation induced meningioma |
| | Radiation related neoplasm /cancer |
| | Radiation-Induced Brachial Plexopathy |
| | Radiculomegaly of canine teeth congenital cataract |
| | Radio digito facial dysplasia |
| | Radio-ulnar synostosis type 1 |
| | Radio-ulnar synostosis type 2 |
| | Radioulnar synostosis mental retardation hypotonia |
| | Radioulnar synostosis retinal pigment abnormalities |
| | Radius absent anogenital anomalies |
| | Ramos Arroyo Clark syndrome |
| | Ramsay Hunt paralysis syndrome |
| | Rasmussen Johnsen Thomsen syndrome |
| | Rasmussen subacute encephalitis |
| | Ray Peterson Scott syndrome |
| | Raynaud's disease/phenomenon |
| | Rayner Lampert Rennert syndrome |
| | Reactive attachment disorder of early childhood |
| | Reactive attachment disorder of infancy |
| | Reardon Hall Slaney syndrome |
| | Reardon Wilson Cavanagh syndrome |
| | Recurrent laryngeal papillomas |
| | Recurrent peripheral facial palsy |
| | Recurrent respiratory papillomatosis |
| | Reductional transverse limb defects |
| | Reflex sympathetic dystrophy syndrome |
| | Refsum disease, infantile form |
| | Reginato Shiapachasse syndrome |
| | Reinhardt Pfeiffer syndrome |
| | Renal adysplasia dominant type |
| | Renal agenesis meningomyelocele mullerian defect |
| | Renal agenesis, bilateral |
| | Renal caliceal diverticuli deafness |
| | Renal carcinoma, familial |
| | Renal dysplasia diffuse autosomal recessive |
| | Renal dysplasia diffuse cystic |
| | Renal dysplasia limb defects |
| | Renal dysplasia megalocystis sirenomelia |
| | Renal dysplasia mesomelia radiohumeral fusion |
| | Renal genital middle ear anomalies |
| | Renal hepatic pancreatic dysplasia Dandy Walker cyst |
| | Renal tubular acidosis progressive nerve deafness |
| | Renal tubular acidosis, distal |
| | Renal tubular acidosis, distal, autosomal dominant |
| | Renal tubular acidosis, distal, autosomal recessive |
| | Renal tubular acidosis, distal, type 3 |
| | Renal tubular acidosis, distal, type 4 |
| | Renal tubular transport disorders inborn |
| | Renier Gabreels Jasper syndrome |
| | Resistance to LH (luteinizing hormone) |
| | Resistance to thyroid stimulating hormone |
| | Respiratory chain deficiency malformations |
| | Respiratory distress syndrome, Adult |
| | Respiratory distress syndrome, infant |
| | Retinal dysplasia X linked |
| | Retinal telangiectasia hypogammaglobulinemia |
| | Retinis pigmentosa deafness hypogenitalism |
| | Retinitis pigmentosa mental retardation deafness |
| | Retinitis pigmentosa-deafness |
| | Retinohepatoendocrinologic syndrome |
| | Retinopathy anemia CNS anomalies |
| | Retinopathy aplastic anemia neurological abnormalities |
| | Retinopathy pigmentary mental retardation |
| | Retinopathy, arteriosclerotic |
| | Retroperitoneal liposarcoma |
| | Reynolds Neri Hermann syndrome |
| | Rhabdomyomatous dysplasia cardiopathy genital anomalies |
| | Rhabdomyosarcoma, alveolar |
| | Rhabdomyosarcoma, embryonal |
| | Rhizomelic dysplasia type Patterson Lowry |
| | Rhizomelic pseudopolyarthritis |
| | Richieri Costa Da Silva syndrome |
| | Richieri Costa Gorlin syndrome |
| | Richieri Costa Guion Almeida Cohen syndrome |
| | Richieri Costa Guion Almeida Rodini syndrome |
| | Richieri Costa Guion Almeida acrofacial dysostosis |
| | Richieri Costa Guion Almeida dwarfism |
| | Richieri Costa Montagnoli syndrome |
| | Richieri Costa Orquizas syndrome |
| | Richieri Costa Silveira Pereira syndrome |
| | Richieri-Costa Colletto Otto syndrome |
| | Right atrium familial dilatation |
| | Right ventricle hypoplasia |
| | Rigid mask like face deafness polydactyly |
| | Rivera Perez Salas syndrome |
| | Robin sequence and oligodactyly |
| | Robinson Miller Bensimon syndrome |
| | Roch-Leri mesosomatous lipomatosis |
| | Rocky Mountain spotted fever |
| | Rodini Richieri Costa syndrome |
| | Rokitansky Kuster Hauser syndrome |
| | Romberg hemi-facial atrophy |
| | Rommen Mueller Sybert syndrome |
| | Rosenberg Chutorian syndrome |
| | Rothmund-Thomson syndrome |
| | Roussy Levy hereditary areflexic dystasia |
| | Rowley-Rosenberg syndrome |
| | Roy Maroteaux Kremp syndrome |
| | Rozin Hertz Goodman syndrome |
| | Rubella virus antenatal infection |
| | Rubinstein Taybi like syndrome |
| | Rubinstein-Taybi syndrome |
| | Rutledge Friedman Harrod syndrome |
| | Ruvalcaba Churesigaew Myhre syndrome |
| | Ruvalcaba-Myhre-Smith syndrome (BRR) |
| | Ruzicka Goerz Anton syndrome |
| |