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 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
- 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 Kuster Hauser syndrome, see Mayer-Rokitansky-Küster-Hauser syndrome
- 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
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