Health Conditions - Genetics Home Reference: R-18 [RARE DISEASES LIBRARY]

Health Conditions - Genetics Home Reference

 Health Conditions

Explore the signs and symptoms, frequency, genetic cause, and inheritance pattern of various conditions, diseases, and syndromes.

• r(20) syndrome, see ring chromosome 20 syndrome
• RA, see rheumatoid arthritis
• 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
• 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 familial intrahepatic cholestasis, see benign recurrent intrahepatic cholestasis
• 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
• reticulate acropigmentation of Kitamura, 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-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
• rheumatoid arthritis
• rhizomelic chondrodysplasia punctata
• RHUC, see renal hypouricemia
• riboflavin transporter deficiency, see riboflavin transporter deficiency neuronopathy
• riboflavin transporter deficiency neuronopathy
• 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 syndrome, see Mayer-Rokitansky-Küster-Hauser syndrome
• Romano-Ward syndrome
• Rothmund-Thomson syndrome
• Rotor syndrome
• round-headed spermatozoa, see globozoospermia
• RP, see retinitis pigmentosa
• 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
• RTS, see Rothmund-Thomson syndrome
• RTS, see Rubinstein-Taybi syndrome
• RTS, see Rett syndrome
• RTT, see Rett syndrome
• Rubinstein-Taybi 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