Genetic diseases-R
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- 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
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Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Prab R. Tumpati, MD