| 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 |
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