Health Conditions (R) - Genetics Home Reference (R)

Health Conditions - Genetics Home Reference

Health Conditions

Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions.

• 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 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 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 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-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
• 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
• 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
• 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
• 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
• 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
• RTS, see Rett 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