Genetic diseases-R

• r(20) syndrome see Ring chromosome 20 syndrome
• RA see Rheumatoid arthritis
• RAB18 deficiency
• Rabson-Mendenhall syndrome
• rachischisis see Spina bifida
• radial and patellar aplasia see RAPADILINO syndrome
• radial and patellar hypoplasia see RAPADILINO syndrome
• radial aplasia-amegakaryocytic thrombocytopenia see Thrombocytopenia-absent radius syndrome
• radial aplasia-thrombocytopenia syndrome see Thrombocytopenia-absent radius syndrome
• RAMSVPS see Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
• RAPADILINO syndrome
• Rapid-onset dystonia parkinsonism
• Raynaud disease see Raynaud phenomenon
• Raynaud phenomenon
• Raynaud's see Raynaud phenomenon
• Raynaud's disease see Raynaud phenomenon
• Raynaud's phenomenon see Raynaud phenomenon
• Raynaud's syndrome see Raynaud phenomenon
• RB see Retinoblastoma
• RBS see Roberts syndrome
• RCDP see Rhizomelic chondrodysplasia punctata
• RCM see Familial restrictive cardiomyopathy
• RCP see Rhizomelic chondrodysplasia punctata
• RCS see Renal coloboma syndrome
• RDP see Rapid-onset dystonia parkinsonism
• rec(8) syndrome see Recombinant 8 syndrome
• recessive ataxia of Beauce see Autosomal recessive cerebellar ataxia type 1
• Recklinghausen Disease, Nerve see Neurofibromatosis type 1
• Recombinant 8 syndrome
• recombinant chromosome 8 syndrome see Recombinant 8 syndrome
• recurrent androgenetic hydatidiform mole see Recurrent hydatidiform mole
• recurrent biparental hydatidiform mole see Recurrent hydatidiform mole
• recurrent duplication of 17q12 see 17q12 duplication
• recurrent familial intrahepatic cholestasis see Benign recurrent intrahepatic cholestasis
• recurrent genomic rearrangement in chromosome 17q12 see 17q12 deletion syndrome
• Recurrent hydatidiform mole
• recurrent intrahepatic cholestasis of pregnancy see Intrahepatic cholestasis of pregnancy
• recurrent polyserositis see Familial Mediterranean fever
• Reed's syndrome see Hereditary leiomyomatosis and renal cell cancer
• refractory macrocytic anemia due to 5q deletion see 5q minus syndrome
• Refsum disease
• Refsum syndrome see Refsum disease
• Refsum's disease see Refsum disease
• Reimann periodic disease see Familial Mediterranean fever
• REN-related kidney disease
• renal adenosarcoma see Wilms tumor
• renal calculi see Kidney stones
• renal calculus see Kidney stones
• renal cancer, Wilms see Wilms tumor
• renal carnitine transport defect see Primary carnitine deficiency
• Renal coloboma syndrome
• renal dysplasia and retinal aplasia see Senior-Løken syndrome
• renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia see Mainzer-Saldino syndrome
• Renal hypouricemia
• renal lithiasis see Kidney stones
• renal stones see Kidney stones
• renal tubular acidosis type 1b see Renal tubular acidosis with deafness
• renal tubular acidosis type I see SLC4A1-associated distal renal tubular acidosis
• Renal tubular acidosis with deafness
• renal tubular acidosis with progressive nerve deafness see Renal tubular acidosis with deafness
• renal tubular acidosis, autosomal recessive, with progressive nerve deafness see Renal tubular acidosis with deafness
• renal tubular acidosis, distal, with progressive nerve deafness see Renal tubular acidosis with deafness
• Renal tubular dysgenesis
• renal Wilms tumor see Wilms tumor
• renal-coloboma syndrome see Renal coloboma syndrome
• renal-ear-anal-radial syndrome (REAR) see Townes-Brocks Syndrome
• renal-retinal syndrome see Senior-Løken syndrome
• Renpenning syndrome
• RERE-related neurodevelopmental syndrome see Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
• resistance to clopidogrel see Clopidogrel resistance
• respiratory carcinoma see Lung cancer
• restless leg syndrome see Restless legs syndrome
• Restless legs syndrome
• reticular pigment anomaly of flexures see Dowling-Degos disease
• reticular pigmented anomaly of flexures see Dowling-Degos disease
• Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
• retinal cone-rod dystrophy see Cone-rod dystrophy
• retinal detachment and occipital encephalocele see Knobloch syndrome
• Retinitis pigmentosa
• retinitis pigmentosa with erythrocytic microcytosis see TRNT1 deficiency
• retinitis pigmentosa-deafness syndrome see Usher syndrome
• Retinoblastoma
• Retroperitoneal fibrosis
• Rett disorder see Rett syndrome
• Rett syndrome
• Rett's disorder see Rett syndrome
• Rett's syndrome see Rett syndrome
• rhabdoid predisposition syndrome see Rhabdoid tumor predisposition syndrome
• Rhabdoid tumor predisposition syndrome
• rheostosis see Melorheostosis
• Rheumatoid arthritis
• Rhizomelic chondrodysplasia punctata
• RHUC see Renal hypouricemia
• riboflavin transporter deficiency see Riboflavin transporter deficiency neuronopathy
• Riboflavin transporter deficiency neuronopathy
• ribonucleic acid polymerase III-related leukodystrophy see Pol III-related leukodystrophy
• Richardson's syndrome see Progressive supranuclear palsy
• riders' vertigo see Motion sickness
• Rieger anomaly see Axenfeld-Rieger syndrome
• Rieger syndrome see Axenfeld-Rieger syndrome
• right isomerism see Heterotaxy syndrome
• right ventricular dysplasia, arrhythmogenic see Arrhythmogenic right ventricular cardiomyopathy
• rigid spinal muscular dystrophy see Rigid spine muscular dystrophy
• rigid spine congenital muscular dystrophy see Rigid spine muscular dystrophy
• Rigid spine muscular dystrophy
• Riley-Day Syndrome see Familial dysautonomia
• Riley-Smith syndrome see Bannayan-Riley-Ruvalcaba syndrome
• Rimmed vacuole myopathy see Inclusion body myopathy 2
• ring 14 see Ring chromosome 14 syndrome
• ring 14 syndrome see Ring chromosome 14 syndrome
• ring 20 syndrome see Ring chromosome 20 syndrome
• ring chromosome 14 see Ring chromosome 14 syndrome
• Ring chromosome 14 syndrome
• ring chromosome 20 see Ring chromosome 20 syndrome
• ring chromosome 20 epilepsy syndrome see Ring chromosome 20 syndrome
• Ring chromosome 20 syndrome
• Rippling muscle disease
• rippling muscle syndrome see Rippling muscle disease
• RLS see Restless legs syndrome
• RMD see Rippling muscle disease
• rMED see Multiple epiphyseal dysplasia
• RMS see Rabson-Mendenhall syndrome
• RNAse T2-deficient leukoencephalopathy
• RNASET2-deficient cystic leukoencephalopathy see RNAse T2-deficient leukoencephalopathy
• Roberts syndrome
• Roberts-SC phocomelia syndrome see Roberts syndrome
• Robin sequence see Isolated Pierre Robin sequence
• Robin syndrome see Isolated Pierre Robin sequence
• Robinow dwarfism see Robinow syndrome
• Robinow syndrome
• Robinow's syndrome see Robinow syndrome
• Robinow-Silverman syndrome see Robinow syndrome
• Robinow-Silverman-Smith syndrome see Robinow syndrome
• rod body disease see Nemaline myopathy
• rod monochromatism see Achromatopsia
• rod myopathy see Nemaline myopathy
• rod-body myopathy see Nemaline myopathy
• rod-cone dystrophy see Retinitis pigmentosa
• RODP see Rapid-onset dystonia parkinsonism
• Rogers syndrome see Thiamine-responsive megaloblastic anemia syndrome
• Roifman-Melamed syndrome see Spondyloenchondrodysplasia with immune dysregulation
• Roifman–Costa syndrome see Spondyloenchondrodysplasia with immune dysregulation
• Rokitansky Kuster Hauser syndrome see Mayer-Rokitansky-Küster-Hauser syndrome
• Rokitansky syndrome see Mayer-Rokitansky-Küster-Hauser syndrome
• Romano-Ward syndrome
• Rosacea
• Rosenthal factor deficiency see Factor XI deficiency
• Rosenthal syndrome see Factor XI deficiency
• Rosenthal's disease see Factor XI deficiency
• Rothmund-Thomson syndrome
• Rotor syndrome
• round-headed spermatozoa see Globozoospermia
• RP see Retinitis pigmentosa
• RPEM see TRNT1 deficiency
• RRM2B-MDS see RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
• RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
• RSH Syndrome see Smith-Lemli-Opitz syndrome
• RSMD see Rigid spine muscular dystrophy
• RSS see Russell-Silver syndrome
• RSTS see Rubinstein-Taybi syndrome
• RTA with progressive nerve deafness see Renal tubular acidosis with deafness
• RTA, classic type see SLC4A1-associated distal renal tubular acidosis
• RTPS see Rhabdoid tumor predisposition syndrome
• RTS see Rubinstein-Taybi syndrome
• RTS see Rothmund-Thomson syndrome
• RTT see Rett syndrome
• Rubinstein-Taybi syndrome
• Ruprecht Majewski syndrome see Bosma arhinia microphthalmia syndrome
• Russell-Silver syndrome
• Ruvalcaba-Myhre syndrome see Bannayan-Riley-Ruvalcaba syndrome
• Ruvalcaba-Myhre-Smith syndrome see Bannayan-Riley-Ruvalcaba syndrome
• RWS see Romano-Ward syndrome